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rs11601907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 1 variant allele is designated benign in ClinVar
Make rs11601907(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2847958
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs11601907
dbSNP (old)rs11601907
ClinGenrs11601907
ebirs11601907
HLIrs11601907
Exacrs11601907
Varsomers11601907
Maprs11601907
PheGenIrs11601907
Biobankrs11601907
1000 genomesrs11601907
hgdprs11601907
ensemblrs11601907
gopubmedrs11601907
geneviewrs11601907
scholarrs11601907
googlers11601907
pharmgkbrs11601907
gwascentralrs11601907
openSNPrs11601907
23andMers11601907
23andMe allrs11601907
SNP Nexus

SNPshotrs11601907
SNPdbers11601907
MSV3drs11601907
GWAS Ctlgrs11601907
Max Magnitude1

aka c.1986C>T and p.Tyr662=

The minor allele is designated benign in ClinVar.


ClinVar
Risk rs11601907(G;G) rs11601907(T;T)
Alt rs11601907(G;G) rs11601907(T;T)
Reference Rs11601907(C;C)
Significance Non-pathogenic
Disease short QT syndrome KCNQ1-Related Disorders Jervell and Lange-Nielsen syndrome not specified Cardiovascular phenotype Familial atrial fibrillation Romano-Ward syndrome Long QT syndrome
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN short QT syndrome KCNQ1-Related Disorders Jervell and Lange-Nielsen syndrome not specified Cardiovascular phenotype Familial atrial fibrillation Romano-Ward syndrome Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2869188C>G; NC_000011.9:g.2869188C>T
CLNSRC
CLNACC RCV000259965.1, RCV000301137.1, RCV000355003.1, RCV000455796.1, RCV000035345.4, RCV000245782.1, RCV000275123.1, RCV000276443.1, RCV000330439.1, RCV000356002.1, RCV000389609.1,