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rs199473384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473384(A;A)
Make rs199473384(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175692
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473384
dbSNP (classic)rs199473384
ClinGenrs199473384
ebirs199473384
HLIrs199473384
Exacrs199473384
Gnomadrs199473384
Varsomers199473384
LitVarrs199473384
Maprs199473384
PheGenIrs199473384
Biobankrs199473384
1000 genomesrs199473384
hgdprs199473384
ensemblrs199473384
geneviewrs199473384
scholarrs199473384
googlers199473384
pharmgkbrs199473384
gwascentralrs199473384
openSNPrs199473384
23andMers199473384
SNPshotrs199473384
SNPdbers199473384
MSV3drs199473384
GWAS Ctlgrs199473384
Max Magnitude0
ClinVar
Risk rs199473384(A;A) rs199473384(T;T)
Alt rs199473384(A;A) rs199473384(T;T)
Reference Rs199473384(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Andersen Tawil syndrome not provided not specified Short QT syndrome 3
Variation info
Gene KCNJ2
CLNDBN Congenital long QT syndrome Andersen Tawil syndrome not provided not specified Short QT syndrome 3
Reversed 0
HGVS NC_000017.10:g.68171833G>A; NC_000017.10:g.68171833G>C; NC_000017.10:g.68171833G>T
CLNSRC ClinVar
CLNACC RCV000058327.3, RCV000157273.3, RCV000255682.2, RCV000493695.1, RCV000170983.3, RCV000470921.1,