rs397508276

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	3	Carrier of a cystic fibrosis allele, of varying clinical signifance
(T;T)	0	common in clinvar

Make rs397508276(C;C)

Make rs397508276(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117590378

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508276
dbSNP (classic)	rs397508276
ClinGen	rs397508276
ebi	rs397508276
HLI	rs397508276
Exac	rs397508276
Gnomad	rs397508276
Varsome	rs397508276
LitVar	rs397508276
Map	rs397508276
PheGenI	rs397508276
Biobank	rs397508276
1000 genomes	rs397508276
hgdp	rs397508276
ensembl	rs397508276
geneview	rs397508276
scholar	rs397508276
google	rs397508276
pharmgkb	rs397508276
gwascentral	rs397508276
openSNP	rs397508276
23andMe	rs397508276
SNPshot	rs397508276
SNPdbe	rs397508276
MSV3d	rs397508276
GWAS Ctlg	rs397508276

Max Magnitude

3

Cystic fibrosis; Tyr569His and Tyr569Asp. CFTR2 database indicates these variants are of "varying clinical significance".

named i5011380 and i5011381 by 23andMe

ClinVar
Risk	rs397508276(C;C) rs397508276(G;G)
Alt	rs397508276(C;C) rs397508276(G;G)
Reference	Rs397508276(T;T)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117230432T>C; NC_000007.13:g.117230432T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046433.2, RCV000046434.3,