rs147750704

Orientation

plus

Stabilized

plus

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

Make rs147750704(A;A)

Make rs147750704(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175316

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs147750704
dbSNP (classic)	rs147750704
ClinGen	rs147750704
ebi	rs147750704
HLI	rs147750704
Exac	rs147750704
Gnomad	rs147750704
Varsome	rs147750704
LitVar	rs147750704
Map	rs147750704
PheGenI	rs147750704
Biobank	rs147750704
1000 genomes	rs147750704
hgdp	rs147750704
ensembl	rs147750704
geneview	rs147750704
scholar	rs147750704
google	rs147750704
pharmgkb	rs147750704
gwascentral	rs147750704
openSNP	rs147750704
23andMe	rs147750704
SNPshot	rs147750704
SNPdbe	rs147750704
MSV3d	rs147750704
GWAS Ctlg	rs147750704

Max Magnitude

0

ClinVar
Risk	rs147750704(A;A)
Alt	rs147750704(A;A)
Reference	Rs147750704(G;G)
Significance	Pathogenic
Disease	Atrial fibrillation Atrial fibrillation not provided
Variation	info
Gene	KCNJ2
CLNDBN	Atrial fibrillation, familial, 9 Atrial fibrillation not provided
Reversed	0
HGVS	NC_000017.10:g.68171457G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023029.2, RCV000058307.3, RCV000148540.1, RCV000170978.4,

[PMID 15922306] A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.

[PMID 19041665] Atrial proarrhythmia due to increased inward rectifier current (I(K1)) arising from KCNJ2 mutation--a simulation study.