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rs147750704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147750704(A;A)
Make rs147750704(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175316
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs147750704
ebirs147750704
HLIrs147750704
Exacrs147750704
Varsomers147750704
Maprs147750704
PheGenIrs147750704
hapmaprs147750704
1000 genomesrs147750704
hgdprs147750704
ensemblrs147750704
gopubmedrs147750704
geneviewrs147750704
scholarrs147750704
googlers147750704
pharmgkbrs147750704
gwascentralrs147750704
openSNPrs147750704
23andMers147750704
23andMe allrs147750704
SNP Nexus

SNPshotrs147750704
SNPdbers147750704
MSV3drs147750704
GWAS Ctlgrs147750704
Max Magnitude0
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
CLNACC RCV000023029.2, RCV000058307.2, RCV000148540.1, RCV000170978.3,


[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.