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rs1057519584

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519584(A;A)
Make rs1057519584(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position2572900
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs1057519584
dbSNP (old)rs1057519584
ClinGenrs1057519584
ebirs1057519584
HLIrs1057519584
Exacrs1057519584
Gnomadrs1057519584
Varsomers1057519584
Maprs1057519584
PheGenIrs1057519584
Biobankrs1057519584
1000 genomesrs1057519584
hgdprs1057519584
ensemblrs1057519584
gopubmedrs1057519584
geneviewrs1057519584
scholarrs1057519584
googlers1057519584
pharmgkbrs1057519584
gwascentralrs1057519584
openSNPrs1057519584
23andMers1057519584
23andMe allrs1057519584
SNPshotrs1057519584
SNPdbers1057519584
MSV3drs1057519584
GWAS Ctlgrs1057519584
Max Magnitude0
ClinVar
Risk rs1057519584(A;A)
Alt rs1057519584(A;A)
Reference Rs1057519584(T;T)
Significance Pathogenic
Disease Short QT syndrome 2
Variation info
Gene KCNQ1
CLNDBN Short QT syndrome 2
Reversed 0
HGVS NC_000011.9:g.2594130T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417068.1,