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rs199472828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472828(C;C)
Make rs199472828(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974938
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472828
ebirs199472828
HLIrs199472828
Exacrs199472828
Varsomers199472828
Maprs199472828
PheGenIrs199472828
hapmaprs199472828
1000 genomesrs199472828
hgdprs199472828
ensemblrs199472828
gopubmedrs199472828
geneviewrs199472828
scholarrs199472828
googlers199472828
pharmgkbrs199472828
gwascentralrs199472828
openSNPrs199472828
23andMers199472828
23andMe allrs199472828
SNP Nexus

SNPshotrs199472828
SNPdbers199472828
MSV3drs199472828
GWAS Ctlgrs199472828
Max Magnitude0
ClinVar
Risk rs199472828(A,C;A,C)
Alt rs199472828(A,C;A,C)
Reference rs199472828(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.150672026C>G; NC_000007.13:g.150672026C>T
CLNSRC ClinVar
CLNACC RCV000058259.2, RCV000181921.2,