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rs199472999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472999(C;C)
Make rs199472999(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150949034
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472999
ebirs199472999
HLIrs199472999
Exacrs199472999
Varsomers199472999
Maprs199472999
PheGenIrs199472999
hapmaprs199472999
1000 genomesrs199472999
hgdprs199472999
ensemblrs199472999
gopubmedrs199472999
geneviewrs199472999
scholarrs199472999
googlers199472999
pharmgkbrs199472999
gwascentralrs199472999
openSNPrs199472999
23andMers199472999
23andMe allrs199472999
SNP Nexus

SNPshotrs199472999
SNPdbers199472999
MSV3drs199472999
GWAS Ctlgrs199472999
Max Magnitude0
ClinVar
Risk rs199472999(C,G;C,G)
Alt rs199472999(C,G;C,G)
Reference rs199472999(T;T)
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.150646122A>C; NC_000007.13:g.150646122A>G
CLNSRC ClinVar
CLNACC RCV000058119.2, RCV000181862.1, RCV000058118.2, RCV000182046.1,