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rs199473419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473419(A;G)
Make rs199473419(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974809
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473419
dbSNP (classic)rs199473419
ClinGenrs199473419
ebirs199473419
HLIrs199473419
Exacrs199473419
Gnomadrs199473419
Varsomers199473419
LitVarrs199473419
Maprs199473419
PheGenIrs199473419
Biobankrs199473419
1000 genomesrs199473419
hgdprs199473419
ensemblrs199473419
geneviewrs199473419
scholarrs199473419
googlers199473419
pharmgkbrs199473419
gwascentralrs199473419
openSNPrs199473419
23andMers199473419
SNPshotrs199473419
SNPdbers199473419
MSV3drs199473419
GWAS Ctlgrs199473419
Max Magnitude0
ClinVar
Risk rs199473419(G;G)
Alt rs199473419(G;G)
Reference Rs199473419(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671897T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000058083.3, RCV000181934.3, RCV000460303.1,