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rs199473544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473544(A;A)
Make rs199473544(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947368
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473544
ebirs199473544
HLIrs199473544
Exacrs199473544
Varsomers199473544
Maprs199473544
PheGenIrs199473544
hapmaprs199473544
1000 genomesrs199473544
hgdprs199473544
ensemblrs199473544
gopubmedrs199473544
geneviewrs199473544
scholarrs199473544
googlers199473544
pharmgkbrs199473544
gwascentralrs199473544
openSNPrs199473544
23andMers199473544
23andMe allrs199473544
SNP Nexus

SNPshotrs199473544
SNPdbers199473544
MSV3drs199473544
GWAS Ctlgrs199473544
Max Magnitude0
ClinVar
Risk rs199473544(A,T;A,T)
Alt rs199473544(A,T;A,T)
Reference rs199473544(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000007.13:g.150644456C>T
CLNSRC ClinVar
CLNACC RCV000058199.2, RCV000181911.2,