Cystic Fibrosis

The wikipedia article on cystic fibrosis is a good resource to learn about the disease. Cystic fibrosis transmembrane conductance regulator (CFTR) is a gene which influences the condition.

The following OMIM article compiles the latest medical research, and the CFTR2 website maintained by Johns Hopkins University maintains information about all the mutations that have been reported.

• rs113993960 and i3000001 are also known as Delta F508, and cause of about 70% of cystic fibrosis cases. This mutation is a deletion of three nucleotides. An alternate name for this variant is rs199826652.

The remaining 30% of cases are due to a wide variety of mutations in the same gene, including the following:

• rs121908745 or i4000292, also known as Delta I507, is a deletion of three nucleotides
• rs75961395 or i4000294, also known as G85E (risk allele A)
• rs78655421 or i4000295, also known as R117H (risk allele A)
• rs121908767, also known as 3199del6 (a deletion of 6 nucleotides)
• rs121909011 or i4000296, also known as R334W (risk allele T)
• rs77932196 or i4000297, also known as R347P/H (risk alleles C or A)
• rs74551128 or i4000291, also known as A455E (risk allele A)
• rs77646904 or i4000299, also known as V520F (risk allele T)
• rs113993958, also known as D110H (risk allele C), is associated with a mild form of cystic fibrosis. OMIM 602421.0004
• rs113993959, also known as G542X (risk allele T); reported as i4000300 by 23andMe. About 13 percent of cystic fibrosis cases among Ashkenazi Jews are caused by this rare SNP [1]. See also OMIM 602421.0009.
• rs121908755 or i4000301, also known as S549N (risk allele A)
• i4000302, also known as S549R (risk allele G)
• rs75527207, known as G551D (risk allele A); reported as i4000305 by 23andMe.
• rs74597325 or i4000306, also known as R553X (risk allele T)
• rs80055610 or i4000307, also known as R560T (risk allele C)
• rs74767530 or i4000308, also known as R1162X (risk allele T)
• rs77010898 or i4000309, also known as W1282X (risk allele A)
• rs80034486 or i4000311, also known as N1303K (risk allele G)
• rs121908769 or i4000313, also known as 394delTT (a deletion)
• rs78756941 or i4000314, also known as 621+1G>T (risk allele T)
• rs77188391 or i4000315, also known as 711+1G>T (risk allele T)
• rs121908744 or i4000316, also known as 1078delT (a deletion)
• rs76713772 or i4000317, also known as 1717-1G>A (risk allele A)
• rs121908748 or i4000318, also known as 1898+1G>A (risk allele A)
• i4000319, also known as 2184delA (a deletion)
• rs80224560 or i4000320, also known as 2789+5G>A (risk allele A)
• rs75096551 or i4000321, also known as 3120+1G>A (risk allele A)
• rs121908747 or i4000322, also known as 3659delC (a deletion)
• i4000323, also known as 3876delA (a deletion)
• rs121908789 or i4000324, also known as 3905insT (an insertion)
• rs75039782 or i4000325, also known as 3849+10kbC>T (risk allele T)

The percent of known cystic fibrosis syndrome disease-causing mutations that are tested by several companies is shown in the following table:

SNP % is based on # of magnitude 5+ SNPs on chip vs in SNPedia (unadjusted for mutation frequency)

	Gene
Company & chip version	CFTR
23andMe v4	0%
23andMe v5	20%
Ancestry v2	60%

For the full curated list and additional information as of July 2018, click to expand the Table below:

CFTR Cystic Fibrosis Pathogenic Mutations

rsid	23andMe term	synonyms (c. or p.)	OMIM	On chip?
rs397508136		c.-9_14del23 (p.Met(?_1)_Pro5(?))		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508328		c.1A>G (p.Met1Val)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508173	i5010659	c.11C>A (p.Ser4Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs193922501	i5010660	c.14C>T (p.Pro5Leu)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508742	i5010671	c.50delT (p.Phe17Serfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508746	i5010675	c.53+1G>T		Ancestry v2, Ancestry v2d
rs397508796		c.79G>T (p.Gly27Ter)
rs397508815	i5010686	c.88C>T (p.Gln30X)		Ancestry v2, Ancestry v2d
rs397508168	i5010697	c.115C>T (p.Gln39Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs151020603		c.137C>A (p.Ala46Asp)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508243		c.164+1G>A		Ancestry v2c, Ancestry v2d
rs397508243		c.164+1G>T		Ancestry v2c, Ancestry v2d
rs121908800		c.164+2T>C		Ancestry v2, Ancestry v2d
rs397508244	i5012197	c.164+3_164+4insT		Ancestry v2, Ancestry v2d
rs200337193		c.165-3C>T		Ancestry v2, Ancestry v2d
rs397508249	i5010717	c.165-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508256	i5010728	c.166G>A (p.Glu56Lys)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508272		c.169T>G (p.Trp57Gly)
rs397508279	i5006093	c.170G>A (p.Trp57Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909025	i5006094	c.171G>A (p.Trp57Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508294	i5010736	c.174_175insA		Ancestry v2, Ancestry v2c, Ancestry v2d
rs77284892	i5010738	c.178G>T (p.Glu60Ter)		Ancestry v2, Ancestry v2d
rs368505753	i5010743	c.200C>T (p.Pro67Leu)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908749	i5010753	c.223C>T (p.Arg75Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508366		c.233dupT (p.Trp79Leufs)
rs75961395	i4000294	c.254G>A (p.Gly85Glu)	602421.0038	Ancestry v2, Ancestry v2d
rs121908769	i4000313	c.262_263delTT (p.Leu88Ilefs)	602421.0128
rs397508412		c.263T>A (p.Leu88X)
rs397508412		c.263T>G (p.Leu88X)
rs121908791	i5010781	c.273+1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs74467662	i5010780	c.273+3A>C		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508426		c.274-2A>G		Ancestry v2, Ancestry v2d
rs121908792	i5010784	c.274-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908751		c.274G>A (p.Glu92Lys)	602421.0077
rs121908751		c.274G>T (p.Glu92Ter)	602421.0082
rs397508461	i5010801	c.292C>T (p.Gln98Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508464		c.293A>G (p.Gln98Arg)
rs397508467	i5010804	c.296C>T (p.Pro99Leu)		Ancestry v2, Ancestry v2d
rs397508499	i5010811	c.310delA (p.Arg104Glufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908801	i5010812	c.313delA (p.Ile105Serfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908798		c.325_327delTATinsG (p.Tyr109Glyfs)
rs113993958	i5006048	c.328G>C (p.Asp110His)	602421.0004
rs397508537	i5010827	c.330C>A (p.Asp110Glu)		Ancestry v2, Ancestry v2d
rs77834169	rs77834169	c.349C>T (p.Arg117Cys)		Ancestry v2, 23andMe v5, Ancestry v2d
rs79660178	rs79660178	c.366T>A (p.Tyr122Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs397508672	i5010858	c.409delC (p.Leu137Serfs)		Ancestry v2, Ancestry v2d
rs121908770		c.442delA (p.Ile148Leufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508733	i4000314	c.489+1G>T
rs397508736	i5010919	c.494T>C (p.Leu165Ser)		Ancestry v2, Ancestry v2d
rs121908771	i5010929	c.531delT (p.Ile177Metfs)		Ancestry v2, Ancestry v2d
rs80282562	i5010930	c.532G>A (p.Gly178Arg)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508750		c.543_546delTAGT (p.Leu183Phefs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508759		c.577G>T (p.Glu193Ter)
rs77188391	i4000315	c.579+1G>T		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508761		c.579+3A>G		Ancestry v2d
rs78440224	i5010947	c.579+5G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs376008630	i5010953	c.580-1G>T
rs121908802	i5010957	c.595C>T (p.His199Tyr)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908803	i5010966	c.613C>T (p.Pro205Ser)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908752	i5006101	c.617T>G (p.Leu206Trp)	602421.0084	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508775	i5010975	c.647G>A (p.Trp216X)		Ancestry v2, Ancestry v2d
rs397508778	i5010980	c.658C>T (p.Gln220Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508782	i5010985	c.680T>G (p.Leu227Arg)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908804		c.720_741delAGGGAGAATGATGATGAAGTAC (p.Gly241Glufs)	602421.0041	Ancestry v2c, Ancestry v2d
rs148519623	i5011007	c.794T>G (p.Met265Arg)		Ancestry v2, Ancestry v2d
rs121908772	i5011008	c.803delA (p.Asn268Ilefs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs193922532	i6008902	c.825C>G (p.Tyr275X)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508799	i5011011	c.828C>A (p.Cys276Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508805		c.859_863delAACTT
rs121909016	i5011050	c.933C>G (p.Phe311Leu)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908744		c.948delT (p.Phe316Leufs)	602421.0059	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508824	i5011072	c.987delA (p.Gly330Glufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs79031340	i5011073, i5053826	c.988G>T (p.Gly330Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909011	i4000296, rs121909011	c.1000C>T (p.Arg334Trp)	602421.0034	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508137		c.1001G>T (p.Arg334Leu)
rs397508138	i50411080	c.1006_1007insG (p.Ile336Serfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508139		c.1007T>A (p.Ile336Lys)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs77409459	i5053827, rs77409459	c.1013C>T (p.Thr338Ile)	602421.0087	Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs397508144		c.1021T>C (p.Ser341Pro)
rs387906360		c.1022_1023insTC		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908774		c.1029delC (p.Cys343Terfs)
rs77932196	i4000297	c.1040G>C (p.Arg347Pro)	602421.0006	Ancestry v2d
rs77932196		c.1040G>A (p.Arg347His)	602421.0078	Ancestry v2d
rs121908753	i5006107	c.1055G>A (p.Arg352Gln)	602421.0092	Ancestry v2, Ancestry v2c, Ancestry v2d
rs387906361		c.1081delT (p.Trp361Glyfs)	602421.0031	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508158		c.1116+1G>A		Ancestry v2c, Ancestry v2d
rs556880586	i5011131	c.1117-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508163	i5011139	c.1127_1128insA		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908785	i5011146	c.1153_1154insAT (p.Asn386Ilefs)
rs397508174	i5011161	c.1202G>A (p.Trp401Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508175		c.1201G>C (p.Trp401Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508177	i5011170	c.1209+1G>A
rs397508183	i5011184	c.1240C>T (p.Gln414Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508189		c.1329_1330insAGAT
rs397508192		c.1340delA (p.Lys447Argfs)		Ancestry v2c, Ancestry v2d
rs74551128	i4000291, i5006050	c.1364C>A (p.Ala455Glu)	602421.0007	Ancestry v2d
rs797045161		c.1365_1366delGG (p.Val456Cysfs)
rs193922500	i5011208	c.1367T>C (p.Val456Ala)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508196		c.1373delG (p.Gly458AspfsX11)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508201	i5011217	c.1393-2A>G		Ancestry v2, Ancestry v2d
rs397508200	i5006135, i5011216	c.1393-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908805		c.1397C>A (p.Ser466Ter)		Ancestry v2c, Ancestry v2d
rs121908805		c.1397C>G (p.Ser466Ter)		Ancestry v2c, Ancestry v2d
rs139573311		c.1400T>C (p.Leu467Pro)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508205		c.1418delG (p.Gly473Glufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508211	i5011243	c.1466C>A (p.Ser489Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909017	i5006080	c.1475C>T (p.Ser492Phe)	602421.0051	Ancestry v2, Ancestry v2c, Ancestry v2d
rs77101217	i5006047	c.1477C>T (p.Gln493Ter)	602421.0003	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908775		c.1477_1478delCA (p.Gln493Valfs)	602421.0115
rs397508216	i5011252	c.1487G>A (p.Trp496X)		Ancestry v2, Ancestry v2d
rs121908745	i4000292	c.1519_1521delATC (p.Ile507del)	602421.0002	Ancestry v2, Ancestry v2d
rs113993960	i3000001	c.1521_1523delCTT (p.Phe508del)	602421.0001	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508225	i5011273	c.1538A>G (p.Asp513Gly)		Ancestry v2, Ancestry v2d
rs121908776		c.1545_1546delTA (p.Tyr515Terfs)	602421.0035	Ancestry v2, Ancestry v2d
rs77646904	i4000299	c.1558G>T (p.Val520Phe)	602421.0046
rs121908754	i5006076	c.1572C>A (p.Cys524Ter)	602421.0047	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508227	i5011284	c.1573C>T (p.Gln525Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508230		c.1584+1G>A
rs193922503	i5011304	c.1585-8G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs76713772	i4000317, rs76713772	c.1585-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs113993959	i4000300, rs113993959	c.1624G>T (p.Gly542Ter)	602421.0009, 602421.0095	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908757	i5006053	c.1645A>C (p.Ser549Arg)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908755	i4000301, i5011323	c.1646G>A (p.Ser549Asn)	602421.001	Ancestry v2c, Ancestry v2d
rs121909005		c.1647T>G (p.Ser549Arg)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs397508247		c.1648G>T (p.Gly550Ter)
rs397508251	i5011328	c.1650delA (p.Gly551Valfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909013	i5006072	c.1651G>A (p.Gly551Ser)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs75527207	i4000305, rs75527207	c.1652G>A (p.Gly551Asp)	602421.0013	Ancestry v2, Ancestry v2c, Ancestry v2d
rs76554633	i5006110	c.1654C>T (p.Gln552Ter)	602421.0096	Ancestry v2, Ancestry v2c, Ancestry v2d
rs74597325	i4000306	c.1657C>T (p.Arg553Ter)	602421.0014	Ancestry v2, Ancestry v2d
rs397508257	i5011341	c.1670delC (p.Ser557PhefsX2)		Ancestry v2, Ancestry v2d
rs75549581	i5006056	c.1675G>A (p.Ala559Thr)	602421.0015	Ancestry v2, Ancestry v2c, Ancestry v2d
rs80055610	i4000307, i5011359	c.1679G>C (p.Arg560Thr)	602421.0016
rs80055610		c.1679G>A (p.Arg560Lys)	602421.0052
rs397508263		c.1679+1G>C		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508263	i5006138	c.1679+1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508267	i5011360	c.1680A>C (p.Arg560Ser)		Ancestry v2, Ancestry v2d
rs121909047	i5006134	c.1682C>A (p.Ala561Glu)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909006		c.1687T>A (p.Tyr563Asn)		Ancestry v2c, Ancestry v2d
rs121909006		c.1687T>G (p.Tyr563Asp)		Ancestry v2c, Ancestry v2d
rs193922505		c.1692delA (p.Asp565Metfs)		Ancestry v2, Ancestry v2d
rs397508274	i5011377	c.1703delT (p.Leu568CysfsX4)		Ancestry v2, Ancestry v2d
rs397508276		c.1705T>G (p.Tyr569Asp)
rs121908758	i5006058	c.1721C>A (p.Pro574His)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs773569201	i6008923	c.1724T>A (p.Phe575Tyr)
rs397508296	i5011404	c.1753G>T (p.Glu585Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908748	i4000318, i5011417	c.1766+1G>A		Ancestry v2d
rs121908748		c.1766+1G>C		Ancestry v2d
rs121908748		c.1766+1G>T		Ancestry v2d
rs397508298		c.1766+3A>G		Ancestry v2c, Ancestry v2d
rs121908796		c.1766+5G>T		Ancestry v2, Ancestry v2d
rs397508303		c.1792_1798delAAAACTA (p.Lys598Glyfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508310		c.1826A>G (p.His609Arg)
rs121908759	i5011446	c.1865G>A (p.Gly622Asp)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508326	i5011470	c.1986_1989delAACT (p.Thr663ArgfsX8)
rs121908812		c.2012delT (p.Leu671Terfs)
rs397508331	i5011477	c.2017G>T (p.Gly673Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908799	i4000319	c.2051_2052delAAinsG
rs121908786		c.2052_2053insA		Ancestry v2, Ancestry v2d
rs121908746		c.2052delA (p.Lys684Asnfs)		Ancestry v2, Ancestry v2d
rs797045162		c.2053_2054insC		Ancestry v2c, Ancestry v2d
rs397508336		c.2053C>T (p.Gln685Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908760	rs121908760	c.2125C>T (p.Arg709Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs75115087	i5006112, i5053833	c.2128A>T (p.Lys710Ter)	602421.0098	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508343	i5011504	c.2143C>T (p.Gln715X)		Ancestry v2, Ancestry v2d
rs397508346	i5011506	c.2158C>T (p.Gln720X)		Ancestry v2, Ancestry v2d
rs121908787	i5011509,i5053858	c.2175_2176insA		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508350	i5011511	c.2195T>G (p.Leu732Ter)		Ancestry v2, Ancestry v2d
rs397508353	i5011516	c.2215delG (p.Val739Tyrfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908810	rs121908810	c.2290C>T (p.Arg764Ter)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs374946172	i5011540	c.2353C>T (p.Arg785Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs145449046	i5011543	c.2374C>T (p.Arg792Ter)		Ancestry v2, Ancestry v2d
rs387906359	i5011551	c.2421_2422dupAT (p.Ser809Ilefs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs797045157	i5011551	c.2423_2424dupAT
rs397515498	i5011556	c.2453delT (p.Leu818Trpfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs797045156		c.2462_2463delGT (p.Ser821Argfs)
rs397508378		c.2464G>T (p.Glu822Ter)
rs141158996	i6056295	c.2490+1G>A	602421.0071	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508387	i5011571	c.2491G>T (p.Glu831Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508393	i5006063	c.2537G>A (p.Trp846Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508394	i5011583	c.2547C>A (p.Tyr849Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909012	i5006071	c.2551C>T (p.Arg851Ter)	602421.0036	Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508399		c.2583delT (p.Phe861Leufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508400		c.2589_2599delAATTTGGTGCT (p.Ile864Serfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508405		c.2600_2601insA		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508413		c.2645G>A (p.Trp882X)
rs80224560	i4000320, rs80224560	c.2657+5G>A		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs397508416		c.2658-1G>C		Ancestry v2, Ancestry v2d
rs79633941	i5053834	c.2668C>T (p.Gln890Ter)	602421.0099	Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs121909034		c.2735C>A (p.Ser912Ter)		Ancestry v2, Ancestry v2d
rs121908788	i5012228	c.2737_2738insG (p.Tyr913Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs149790377	i5011647	c.2739T>A (p.Tyr913Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508431		c.2764_2765insAG (p.Val922Glufs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508435	i5011662	c.2780T>C (p.Leu927Pro)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs193922510	i5011667	c.2810_2811insT		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508441		c.2825delT (p.Ile942Thrfs)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs397508442	i5011672	c.2834C>T (p.Ser945Leu)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508445		c.2859_2890delACATTCTGTTCTTCAAGCACCTATGTCAACCC (p.Leu953Phefs)
rs397508447	i5011682	c.2875delG (p.Ala959Hisfs)		Ancestry v2c, Ancestry v2d
rs397508451	i5011685	c.2896delA (p.Thr966Argfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508453	i5011692	c.2908G>C (p.Gly970Arg)		Ancestry v2c, Ancestry v2d
rs397508462	i5011709	c.2936A>T (p.Asp979Val)
rs121908797	rs121908797	c.2988G>A (p.Gln996=)		Ancestry v2, 23andMe v5, Ancestry v2c, Ancestry v2d
rs75096551	i4000321, rs75096551	c.2988+1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs193922515		c.2989-2A>G		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508470		c.2989-1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508477	i5011741	c.3002_3003delTG (p.Val1001Aspfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908781		c.3039delC (p.Tyr1014Thrfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508485		c.3039_3040insC (p.Tyr1014LeufsX33)
rs144055758		c.3095A>G (p.Tyr1032Cys)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508500	i5011775	c.3124C>T (p.Gln1042X)		Ancestry v2, Ancestry v2d
rs397508505		c.3139_3139+1delGG (p.Gly1047GlnfsX28)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508508	i5011792, i5053854	c.3140-26A>G		Ancestry v2, Ancestry v2d
rs397508510	i5011800	c.3160C>G (p.His1054Asp)		Ancestry v2, Ancestry v2d
rs142394380	i5011808	c.3181G>C (p.Gly1061Arg)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909036	i5006115	c.3194T>C (p.Leu1065Pro)	602421.0103	Ancestry v2, Ancestry v2c, Ancestry v2d
rs78194216	i5053836, rs78194216	c.3196C>T (p.Arg1066Cys)	602421.0058	Ancestry v2, 23andMe v5, Ancestry v2d
rs121909019	i5006083	c.3197G>A (p.Arg1066His)	602421.0054	Ancestry v2, Ancestry v2c, Ancestry v2d
rs139304906	i5011836	c.3230T>C (p.Leu1077Pro)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs78802634	i5006103, i5053839	c.3266G>A (p.Trp1089Ter)	602421.0088	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908761		c.3276C>A (p.Tyr1092Ter)		Ancestry v2c, Ancestry v2d
rs121908761		c.3276C>G (p.Tyr1092Ter)		Ancestry v2c, Ancestry v2d
rs397508532		c.3293G>A (p.Trp1098Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508533	i5011862	c.3294G>A (p.Trp1098Ter)		Ancestry v2, Ancestry v2d
rs36210737	rs36210737	c.3302T>A (p.Met1101Lys)	602421.0137	23andMe v4, 23andMe v5, 23andMe v3
rs397508536		c.3304A>T (p.Arg1102Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508538	i5011868	c.3310G>T (p.Glu1104Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs146521846		c.3353C>T (p.Ser1118Phe)		Ancestry v2, Ancestry v2d
rs755416052	i5011886	c.3368-2A>G
rs397508561	i5011908	c.3435G>A (p.Thr1145X)		Ancestry v2, Ancestry v2d
rs397508567	i5011914	c.3458T>A (p.Val1153Glu)		Ancestry v2, Ancestry v2d
rs139729994		c.3468G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs79850223	i5006074	c.3472C>T (p.Arg1158Ter)	602421.0039
rs397508573		c.3476C>T (p.Ser1159Phe)		Ancestry v2, Ancestry v2d
rs74767530	i4000308, i6056298	c.3484C>T (p.Arg1162Ter)	602421.0033	Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908747	i4000322	c.3528delC (p.Lys1177Serfs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs387906378	i5011943	c.3535_3536insTCAA (p.Thr1179Ilefs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908763	i5011952	c.3587C>G (p.Ser1196Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508587	i5011956	c.3605delA (p.Asp1202Alafs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908764	i5006120	c.3611G>A (p.Trp1204Ter)		Ancestry v2, Ancestry v2d
rs121908765	i5006119	c.3612G>A (p.Trp1204Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121908811		c.3659delC (p.Thr1220Lysfs)	602421.002	Ancestry v2, Ancestry v2d
rs121908783	i5012241	c.3691delT (p.Ser1231Profs)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs75389940	i5053843	c.3700A>G (p.Ile1234Val)	602421.011
rs387906362	i5011985	c.3717+4A>G		Ancestry v2, Ancestry v2c, Ancestry v2d
rs193922520	i5011984	c.3717+5G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs75039782	i4000325, rs75039782	c.3717+12191C>T		Ancestry v2, Ancestry v2d
rs397508596	i5011990	c.3718-3T>G		Ancestry v2, Ancestry v2c, Ancestry v2d
rs387906369	i5011989	c.3718-1G>A	602421.0073	Ancestry v2, Ancestry v2c, Ancestry v2d
rs267606723		c.3731G>A (p.Gly1244Glu)		Ancestry v2, Ancestry v2d
rs397508600	i5012000	c.3737C>T (p.Thr1246Ile)		Ancestry v2, Ancestry v2d
rs121908784	i4000323, i5012003	c.3744delA (p.Lys1250Argfs)	602421.0127
rs797045159		c.3747delG (p.Lys1250Argfs)		Ancestry v2c, Ancestry v2d
rs74503330	i5006123, i5053845	c.3752G>A (p.Ser1251Asn)	602421.0112	Ancestry v2, Ancestry v2d
rs397508604	i5012010	c.3761T>G (p.Leu1254Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs121909041	i5006124	c.3763T>C (p.Ser1255Pro)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs76649725	rs76649725	c.3764C>A (p.Ser1255Ter)		23andMe v5
rs121908789	i4000324, i5012017	c.3773_3774insT
rs77010898	i4000309	c.3846G>A (p.Trp1282Ter)	602421.0022	Ancestry v2, Ancestry v2c, Ancestry v2d
rs77902683	i5006086	c.3848G>T (p.Arg1283Met)
rs121909015		c.3873+1G>A		Ancestry v2, Ancestry v2c, Ancestry v2d
rs146795445	i5012054	c.3873+2T>C		Ancestry v2, Ancestry v2d
rs397508628		c.3882_3885delTATT
rs397508630		c.3883delA (p.Ile1295Phefs)
rs121908808		c.3884_3885insT
rs397508631	i5012071	c.3889dupT (p.Ser1297PhefsX5)
rs397508631	i5012071	c.3890_3891insT (p.Gly1298TrpfsX4)
rs797045158		c.3899dupT (p.Arg1301Terfs)
rs397508637		c.3908delA (p.Asn1303Thrfs)		Ancestry v2c, Ancestry v2d
rs80034486	i4000311, rs80034486	c.3909C>G (p.Asn1303Lys)	602421.0032	Ancestry v2c, Ancestry v2d
rs121909026	i5006095	c.3937C>T (p.Gln1313Ter)	602421.0076
rs397508658	i5012112	c.4004T>C (p.Leu1335Pro)		Ancestry v2, Ancestry v2d
rs397508662		c.4036_4042delCTAAGCC (p.Leu1346MetfsX6)		Ancestry v2, Ancestry v2d
rs193922525	i5012121	c.4046G>A (p.Gly1349Asp)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508668	i5012253	c.4077_4080delTGTTinsAA (p.Val1360Thrfs)
rs397508669	i5012254	c.4086_4087insT		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508675	i5012129	c.4111G>T (p.Glu1371Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508684	i5012142	c.4144C>T (p.Gln1382Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508685	i5012143	c.4147_4148insA		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508693		c.4196_4197delTC		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508701	i5012162	c.4231C>T (p.Gln1411Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs397508702	i5012163	c.4234C>T (p.Gln1412Ter)		Ancestry v2, Ancestry v2c, Ancestry v2d
rs372227120		c.4242+1G>T		Ancestry v2, Ancestry v2d
rs372227120		c.4242+1G>A		Ancestry v2, Ancestry v2d
rs397508706		c.4251delA (p.Glu1418Argfs)		Ancestry v2c, Ancestry v2d
rs397508709		c.4296_4297insGA (p.Ser1435Glyfs)		Ancestry v2, Ancestry v2d

SNPs in other genes may also influence the course and severity of cystic fibrosis. However, several reports of such SNPs have not been able to be replicated [PMID 21614089]. Perhaps the largest study to date (2011; [PMID 21602797] is based on ~3,000 patients, most of whom were homozygous for the delta508 mutation, and from it, the following SNPs were found to be either "significant" or "suggestive", with the risk allele (worse lung function) shown indexed to the forward strand as shown in NCBI build 36:

• rs12793173(C); significant
• rs1403543(A); suggestive
• rs9268905(C); suggestive
• rs4760506(G); suggestive
• rs12883884(T); suggestive
• rs12188164(A); suggestive
• rs11645366(C); suggestive

Additional Publications/Findings:

[2] a small percentage of CF sufferers with a rare genetic stop mutation (Y122X) responded positively to Gentamicin treatment.

[3] Study reveals how cells destroy faulty proteins in cystic fibrosis.

Heterozygous CFTR mutation carriers are at slightly higher (1.6x) risk for asthma, according to a 2016 meta-analysis.[PMID 27324553]

With CF the body will make or absorb too much oxalate. Here is a Yahoo! group of people who are interested in trying low oxalate diets.

Yahoo CF directory

CF Parents

Ambry Genetics offers genetic testing for cystic fibrosis. You can see some of the Ambry related discussion in the cysticfibrosis.com forums.

[4] HIV can be used to correct faulty cystic fibrosis gene in mice.

Normals Nature Genetics 25aug13 Del

• rs113993960(-;-) rs113993960
• rs121908744(-;-) rs121908744
• rs121908745(-;-) rs121908745
• rs121908747(-;-) rs121908747
• rs121908769(-;-) rs121908769
• rs121908770(-;-) rs121908770
• rs121908771(-;-) rs121908771
• rs121908776(-;-) rs121908776
• rs121908804(-;-) rs121908804
• rs121908811(-;-) rs121908811
• rs121908812(-;-) rs121908812

ins

• rs121908787(-;-) rs121908787
• rs121908789(-;-) rs121908789
• rs121908798(-;-) rs121908798
• rs121908799(-;-) rs121908799

• rs113993958(G;G) rs113993958
• rs113993959(G;G) rs113993959
• rs121908749(C;C) rs121908749
• rs121908751(G;G) rs121908751
• rs121908751(G;G) rs121908751
• rs121908752(T;T) rs121908752
• rs121908753(G;G) rs121908753
• rs121908755(G;G) rs121908755
• rs121908760(C;C) rs121908760
• rs121908763(C;C) rs121908763
• rs121908791(G;G) rs121908791
• rs121908792(G;G) rs121908792
• rs121908793(G;G) rs121908793
• rs121908794(G;G) rs121908794
• rs121908802(C;C) rs121908802
• rs121908803(C;C) rs121908803
• rs121908810(C;C) rs121908810
• rs121909011(C;C) rs121909011
• rs121909012(C;C) rs121909012
• rs121909017(C;C) rs121909017
• rs121909019(G;G) rs121909019
• rs121909026(C;C) rs121909026
• rs121909036(T;T) rs121909036
• rs139304906(T;T) rs139304906
• rs139573311(T;T) rs139573311
• rs141158996(G;G) rs141158996
• rs143570767(G;G) rs143570767
• rs36210737(T;T) rs36210737
• rs74503330(G;G) rs74503330
• rs74551128(C;C) rs74551128
• rs74597325(C;C) rs74597325
• rs74767530(C;C) rs74767530
• rs75096551(G;G) rs75096551
• rs75115087(A;A) rs75115087
• rs75527207(G;G) rs75527207
• rs75549581(G;G) rs75549581
• rs75961395(G;G) rs75961395
• rs76554633(C;C) rs76554633
• rs76713772(G;G) rs76713772
• rs77010898(G;G) rs77010898
• rs77101217(C;C) rs77101217
• rs77188391(G;G) rs77188391
• rs77284892(G;G) rs77284892
• rs77409459(C;C) rs77409459
• rs77646904(G;G) rs77646904
• rs77834169(C;C) rs77834169
• rs77932196(G;G) rs77932196
• rs77932196(G;G) rs77932196
• rs78194216(C;C) rs78194216
• rs78756941(G;G) rs78756941
• rs78802634(G;G) rs78802634
• rs79031340(G;G) rs79031340
• rs79633941(C;C) rs79633941
• rs79660178(T;T) rs79660178
• rs79850223(C;C) rs79850223
• rs80034486(C;C) rs80034486
• rs80055610(G;G) rs80055610
• rs80055610(G;G) rs80055610
• rs80282562(G;G) rs80282562