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rs199473418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473418(A;A)
Make rs199473418(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974810
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473418
dbSNP (classic)rs199473418
ClinGenrs199473418
ebirs199473418
HLIrs199473418
Exacrs199473418
Gnomadrs199473418
Varsomers199473418
LitVarrs199473418
Maprs199473418
PheGenIrs199473418
Biobankrs199473418
1000 genomesrs199473418
hgdprs199473418
ensemblrs199473418
geneviewrs199473418
scholarrs199473418
googlers199473418
pharmgkbrs199473418
gwascentralrs199473418
openSNPrs199473418
23andMers199473418
SNPshotrs199473418
SNPdbers199473418
MSV3drs199473418
GWAS Ctlgrs199473418
Max Magnitude0
ClinVar
Risk rs199473418(A;A)
Alt rs199473418(A;A)
Reference Rs199473418(C;C)
Significance Untested
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671898G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058082.3,