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rs17215479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs17215479(A;A)
Make rs17215479(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2571363
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs17215479
ClinGenrs17215479
ebirs17215479
HLIrs17215479
Exacrs17215479
Varsomers17215479
Maprs17215479
PheGenIrs17215479
hapmaprs17215479
1000 genomesrs17215479
hgdprs17215479
ensemblrs17215479
gopubmedrs17215479
geneviewrs17215479
scholarrs17215479
googlers17215479
pharmgkbrs17215479
gwascentralrs17215479
openSNPrs17215479
23andMers17215479
23andMe allrs17215479
SNP Nexus

SNPshotrs17215479
SNPdbers17215479
MSV3drs17215479
GWAS Ctlgrs17215479
Max Magnitude0


ClinVar
Risk rs17215479(A;A)
Alt rs17215479(A;A)
Reference Rs17215479(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2592593G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000046101.2, RCV000057727.3, RCV000255103.1,