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rs199473381

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473381(G;T)
Make rs199473381(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175605
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473381
dbSNP (classic)rs199473381
ClinGenrs199473381
ebirs199473381
HLIrs199473381
Exacrs199473381
Gnomadrs199473381
Varsomers199473381
LitVarrs199473381
Maprs199473381
PheGenIrs199473381
Biobankrs199473381
1000 genomesrs199473381
hgdprs199473381
ensemblrs199473381
geneviewrs199473381
scholarrs199473381
googlers199473381
pharmgkbrs199473381
gwascentralrs199473381
openSNPrs199473381
23andMers199473381
SNPshotrs199473381
SNPdbers199473381
MSV3drs199473381
GWAS Ctlgrs199473381
Max Magnitude0
ClinVar
Risk rs199473381(A;A) rs199473381(T;T)
Alt rs199473381(A;A) rs199473381(T;T)
Reference Rs199473381(G;G)
Significance Pathogenic
Disease not provided Congenital long QT syndrome
Variation info
Gene KCNJ2
CLNDBN not provided Congenital long QT syndrome
Reversed 0
HGVS NC_000017.10:g.68171746G>A; NC_000017.10:g.68171746G>T
CLNSRC ClinVar
CLNACC RCV000170980.2, RCV000058320.3, RCV000170981.2,