rs79850223

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	cystic fibrosis carrier

Make rs79850223(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117627525

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs79850223
dbSNP (classic)	rs79850223
ClinGen	rs79850223
ebi	rs79850223
HLI	rs79850223
Exac	rs79850223
Gnomad	rs79850223
Varsome	rs79850223
LitVar	rs79850223
Map	rs79850223
PheGenI	rs79850223
Biobank	rs79850223
1000 genomes	rs79850223
hgdp	rs79850223
ensembl	rs79850223
geneview	rs79850223
scholar	rs79850223
google	rs79850223
pharmgkb	rs79850223
gwascentral	rs79850223
openSNP	rs79850223
23andMe	rs79850223
SNPshot	rs79850223
SNPdbe	rs79850223
MSV3d	rs79850223
GWAS Ctlg	rs79850223

Max Magnitude

3

Cystic fibrosis; c.3472C>T, p.Arg1158Ter

note also multiple alternative alleles

named i5011927, i5006074 and i5053841 by 23andMe?

FTDNA & MyHeritage name: VG07S29422

OMIM	602421
Desc
Variant	0039
Related	also

ClinVar
Risk	rs79850223(T;T)
Alt	rs79850223(T;T)
Reference	Rs79850223(C;C)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117267579C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007564.5,