rs75039782

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Cystic fibrosis allele (carrier)
(G;G)	0	common in complete genomics

Make rs75039782(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

117639961

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs75039782
dbSNP (classic)	rs75039782
ClinGen	rs75039782
ebi	rs75039782
HLI	rs75039782
Exac	rs75039782
Gnomad	rs75039782
Varsome	rs75039782
LitVar	rs75039782
Map	rs75039782
PheGenI	rs75039782
Biobank	rs75039782
1000 genomes	rs75039782
hgdp	rs75039782
ensembl	rs75039782
geneview	rs75039782
scholar	rs75039782
google	rs75039782
pharmgkb	rs75039782
gwascentral	rs75039782
openSNP	rs75039782
23andMe	rs75039782
SNPshot	rs75039782
SNPdbe	rs75039782
MSV3d	rs75039782
GWAS Ctlg	rs75039782

Max Magnitude

3

Cystic fibrosis; c.3718-2477C>T ; 3849+10kbC>T

named i5011981 and i4000325 by 23andMe

FTDNA & MyHeritage name: VG07S52449

OMIM	602421
Desc
Variant	0062
Related	also

ClinVar
Risk	Rs75039782(G;G) rs75039782(T;T)
Alt	Rs75039782(G;G) rs75039782(T;T)
Reference	Rs75039782(C;C)
Significance	Drug-response
Disease	ataluren response - Efficacy Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	ataluren response - Efficacy Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117280015C>G; NC_000007.13:g.117280015C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000417151.1, RCV000007586.10, RCV000079001.3, RCV000282716.1,

[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.