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rs199473379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473379(A;A)
Make rs199473379(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175476
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473379
ebirs199473379
HLIrs199473379
Exacrs199473379
Varsomers199473379
Maprs199473379
PheGenIrs199473379
hapmaprs199473379
1000 genomesrs199473379
hgdprs199473379
ensemblrs199473379
gopubmedrs199473379
geneviewrs199473379
scholarrs199473379
googlers199473379
pharmgkbrs199473379
gwascentralrs199473379
openSNPrs199473379
23andMers199473379
23andMe allrs199473379
SNP Nexus

SNPshotrs199473379
SNPdbers199473379
MSV3drs199473379
GWAS Ctlgrs199473379
Max Magnitude0
ClinVar
Risk rs199473379(A,C;A,C)
Alt rs199473379(A,C;A,C)
Reference rs199473379(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000017.10:g.68171617G>A; NC_000017.10:g.68171617G>C
CLNSRC ClinVar
CLNACC RCV000058315.2, RCV000058316.2,