Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473371(A;G)
Make rs199473371(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175272
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473371
dbSNP (classic)rs199473371
ClinGenrs199473371
ebirs199473371
HLIrs199473371
Exacrs199473371
Gnomadrs199473371
Varsomers199473371
LitVarrs199473371
Maprs199473371
PheGenIrs199473371
Biobankrs199473371
1000 genomesrs199473371
hgdprs199473371
ensemblrs199473371
geneviewrs199473371
scholarrs199473371
googlers199473371
pharmgkbrs199473371
gwascentralrs199473371
openSNPrs199473371
23andMers199473371
SNPshotrs199473371
SNPdbers199473371
MSV3drs199473371
GWAS Ctlgrs199473371
Max Magnitude0
ClinVar
Risk rs199473371(G;G)
Alt rs199473371(G;G)
Reference Rs199473371(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome Andersen Tawil syndrome
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome Andersen Tawil syndrome
Reversed 0
HGVS NC_000017.10:g.68171413A>G
CLNSRC ClinVar
CLNACC RCV000058304.3, RCV000157272.1,