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rs120074195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074195(C;C)
Make rs120074195(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572984
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074195
ebirs120074195
HLIrs120074195
Exacrs120074195
Varsomers120074195
Maprs120074195
PheGenIrs120074195
hapmaprs120074195
1000 genomesrs120074195
hgdprs120074195
ensemblrs120074195
gopubmedrs120074195
geneviewrs120074195
scholarrs120074195
googlers120074195
pharmgkbrs120074195
gwascentralrs120074195
openSNPrs120074195
23andMers120074195
23andMe allrs120074195
SNP Nexus

SNPshotrs120074195
SNPdbers120074195
MSV3drs120074195
GWAS Ctlgrs120074195
Max Magnitude0
OMIM607542
Desc
Variant0037
Relatedalso
ClinVar
Risk rs120074195(C;C)
Alt rs120074195(C;C)
Reference rs120074195(G;G)
Significance Pathogenic
Disease Short QT syndrome 2 short QT syndrome
Variation info
Gene KCNQ1
CLNDBN Short QT syndrome 2 short QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594214G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003298.3, RCV000057800.2,


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.

[PMID 15159330] Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

[PMID 20436212] Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation.