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rs199473420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 5 Romano-Ward Long QT Syndrome
(G;G) 0 common in clinvar


Make rs199473420(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974807
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473420
dbSNP (classic)rs199473420
ClinGenrs199473420
ebirs199473420
HLIrs199473420
Exacrs199473420
Gnomadrs199473420
Varsomers199473420
LitVarrs199473420
Maprs199473420
PheGenIrs199473420
Biobankrs199473420
1000 genomesrs199473420
hgdprs199473420
ensemblrs199473420
geneviewrs199473420
scholarrs199473420
googlers199473420
pharmgkbrs199473420
gwascentralrs199473420
openSNPrs199473420
23andMers199473420
SNPshotrs199473420
SNPdbers199473420
MSV3drs199473420
GWAS Ctlgrs199473420
Max Magnitude5
ClinVar
Risk rs199473420(C;C)
Alt rs199473420(C;C)
Reference Rs199473420(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.150671895C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000058086.3, RCV000181935.2,