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rs104894252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894252(A;A)
Make rs104894252(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570715
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs104894252
ebirs104894252
HLIrs104894252
Exacrs104894252
Varsomers104894252
Maprs104894252
PheGenIrs104894252
hapmaprs104894252
1000 genomesrs104894252
hgdprs104894252
ensemblrs104894252
gopubmedrs104894252
geneviewrs104894252
scholarrs104894252
googlers104894252
pharmgkbrs104894252
gwascentralrs104894252
openSNPrs104894252
23andMers104894252
23andMe allrs104894252
SNP Nexus

SNPshotrs104894252
SNPdbers104894252
MSV3drs104894252
GWAS Ctlgrs104894252
Max Magnitude0
OMIM607542
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894252(A,C;A,C)
Alt rs104894252(A,C;A,C)
Reference rs104894252(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2591945G>A; NC_000011.9:g.2591945G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003261.2, RCV000046083.2, RCV000057702.2, RCV000223880.1, RCV000057703.2,


[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

[PMID 10376919] Functional effects of mutations in KvLQT1 that cause long QT syndrome.

[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.