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rs199472835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472835(G;T)
Make rs199472835(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974897
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199472835
dbSNP (classic)rs199472835
ClinGenrs199472835
ebirs199472835
HLIrs199472835
Exacrs199472835
Gnomadrs199472835
Varsomers199472835
LitVarrs199472835
Maprs199472835
PheGenIrs199472835
Biobankrs199472835
1000 genomesrs199472835
hgdprs199472835
ensemblrs199472835
geneviewrs199472835
scholarrs199472835
googlers199472835
pharmgkbrs199472835
gwascentralrs199472835
openSNPrs199472835
23andMers199472835
SNPshotrs199472835
SNPdbers199472835
MSV3drs199472835
GWAS Ctlgrs199472835
Max Magnitude0
ClinVar
Risk rs199472835(C;C) rs199472835(T;T)
Alt rs199472835(C;C) rs199472835(T;T)
Reference Rs199472835(G;G)
Significance Probable-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.150671985C>A; NC_000007.13:g.150671985C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000057874.3, RCV000412825.1,