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rs1057517742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517742(A;A)
Make rs1057517742(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position150958430
GeneKCNH2
is asnp
is mentioned by
dbSNPrs1057517742
dbSNP (classic)rs1057517742
ClinGenrs1057517742
ebirs1057517742
HLIrs1057517742
Exacrs1057517742
Gnomadrs1057517742
Varsomers1057517742
LitVarrs1057517742
Maprs1057517742
PheGenIrs1057517742
Biobankrs1057517742
1000 genomesrs1057517742
hgdprs1057517742
ensemblrs1057517742
geneviewrs1057517742
scholarrs1057517742
googlers1057517742
pharmgkbrs1057517742
gwascentralrs1057517742
openSNPrs1057517742
23andMers1057517742
SNPshotrs1057517742
SNPdbers1057517742
MSV3drs1057517742
GWAS Ctlgrs1057517742
Max Magnitude0
ClinVar
Risk rs1057517742(A;A) rs1057517742(G;G)
Alt rs1057517742(A;A) rs1057517742(G;G)
Reference Rs1057517742(C;C)
Significance Pathogenic
Disease Long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150655518G>C; NC_000007.13:g.150655518G>T
CLNSRC
CLNACC RCV000473446.1, RCV000413351.1,