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

rs199473383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473383(A;A)
Make rs199473383(A;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position70175683
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473383
dbSNP (classic)rs199473383
ClinGenrs199473383
ebirs199473383
HLIrs199473383
Exacrs199473383
Gnomadrs199473383
Varsomers199473383
LitVarrs199473383
Maprs199473383
PheGenIrs199473383
Biobankrs199473383
1000 genomesrs199473383
hgdprs199473383
ensemblrs199473383
geneviewrs199473383
scholarrs199473383
googlers199473383
pharmgkbrs199473383
gwascentralrs199473383
openSNPrs199473383
23andMers199473383
SNPshotrs199473383
SNPdbers199473383
MSV3drs199473383
GWAS Ctlgrs199473383
Max Magnitude0
ClinVar
Risk rs199473383(A;A)
Alt rs199473383(A;A)
Reference Rs199473383(G;G)
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.68171824G>A
CLNSRC ClinVar
CLNACC RCV000058323.3, RCV000458761.1,