rs121909036

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs121909036(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117611635

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909036
dbSNP (classic)	rs121909036
ClinGen	rs121909036
ebi	rs121909036
HLI	rs121909036
Exac	rs121909036
Gnomad	rs121909036
Varsome	rs121909036
LitVar	rs121909036
Map	rs121909036
PheGenI	rs121909036
Biobank	rs121909036
1000 genomes	rs121909036
hgdp	rs121909036
ensembl	rs121909036
geneview	rs121909036
scholar	rs121909036
google	rs121909036
pharmgkb	rs121909036
gwascentral	rs121909036
openSNP	rs121909036
23andMe	rs121909036
SNPshot	rs121909036
SNPdbe	rs121909036
MSV3d	rs121909036
GWAS Ctlg	rs121909036

Max Magnitude

3

Cystic fibrosis; c.3194T>C, p.Leu1065Pro

named i5011813 by 23andMe

OMIM	602421
Desc
Variant	0103
Related	also

ClinVar
Risk	rs121909036(C;C) rs121909036(G;G)
Alt	rs121909036(C;C) rs121909036(G;G)
Reference	Rs121909036(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117251689T>C; NC_000007.13:g.117251689T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007629.6, RCV000311326.1, RCV000046812.2,