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rs199473011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473011(A;A)
Make rs199473011(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947728
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473011
dbSNP (classic)rs199473011
ClinGenrs199473011
ebirs199473011
HLIrs199473011
Exacrs199473011
Gnomadrs199473011
Varsomers199473011
LitVarrs199473011
Maprs199473011
PheGenIrs199473011
Biobankrs199473011
1000 genomesrs199473011
hgdprs199473011
ensemblrs199473011
geneviewrs199473011
scholarrs199473011
googlers199473011
pharmgkbrs199473011
gwascentralrs199473011
openSNPrs199473011
23andMers199473011
SNPshotrs199473011
SNPdbers199473011
MSV3drs199473011
GWAS Ctlgrs199473011
Max Magnitude0
ClinVar
Risk rs199473011(A;A)
Alt rs199473011(A;A)
Reference Rs199473011(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150644816C>T
CLNSRC ClinVar
CLNACC RCV000058170.2, RCV000182047.1,