rs397508131

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397508131(A;A)

Make rs397508131(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572986

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508131
dbSNP (classic)	rs397508131
ClinGen	rs397508131
ebi	rs397508131
HLI	rs397508131
Exac	rs397508131
Gnomad	rs397508131
Varsome	rs397508131
LitVar	rs397508131
Map	rs397508131
PheGenI	rs397508131
Biobank	rs397508131
1000 genomes	rs397508131
hgdp	rs397508131
ensembl	rs397508131
geneview	rs397508131
scholar	rs397508131
google	rs397508131
pharmgkb	rs397508131
gwascentral	rs397508131
openSNP	rs397508131
23andMe	rs397508131
SNPshot	rs397508131
SNPdbe	rs397508131
MSV3d	rs397508131
GWAS Ctlg	rs397508131

Max Magnitude

0

ClinVar
Risk	rs397508131(A;A)
Alt	rs397508131(A;A)
Reference	Rs397508131(G;G)
Significance	Probable-Pathogenic
Disease	Jervell and Lange-Nielsen syndrome 1 not provided
Variation	info
Gene	KCNQ1
CLNDBN	Jervell and Lange-Nielsen syndrome 1 not provided
Reversed	0
HGVS	NC_000011.9:g.2594216G>A
CLNSRC	ClinVar
CLNACC	RCV000046156.2, RCV000182133.2,