rs397508163

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	3	carrier of a cystic fibrosis allele

Make rs397508163(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117542026

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508163
dbSNP (classic)	rs397508163
ClinGen	rs397508163
ebi	rs397508163
HLI	rs397508163
Exac	rs397508163
Gnomad	rs397508163
Varsome	rs397508163
LitVar	rs397508163
Map	rs397508163
PheGenI	rs397508163
Biobank	rs397508163
1000 genomes	rs397508163
hgdp	rs397508163
ensembl	rs397508163
geneview	rs397508163
scholar	rs397508163
google	rs397508163
pharmgkb	rs397508163
gwascentral	rs397508163
openSNP	rs397508163
23andMe	rs397508163
SNPshot	rs397508163
SNPdbe	rs397508163
MSV3d	rs397508163
GWAS Ctlg	rs397508163

Merged from

Rs587777926

Max Magnitude

3

Cystic fibrosis; c.1127_1128insA, p.Gln378Alafs

named i5011139 by 23andMe

ClinVar
Risk	rs397508163(A;A)
Alt	rs397508163(A;A)
Reference	Rs397508163(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117182081dupA
CLNSRC	CFTR2
CLNACC	RCV000056341.3,