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rs17215500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17215500(C;T)
Make rs17215500(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2768881
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs17215500
ebirs17215500
HLIrs17215500
Exacrs17215500
Varsomers17215500
Maprs17215500
PheGenIrs17215500
hapmaprs17215500
1000 genomesrs17215500
hgdprs17215500
ensemblrs17215500
gopubmedrs17215500
geneviewrs17215500
scholarrs17215500
googlers17215500
pharmgkbrs17215500
gwascentralrs17215500
openSNPrs17215500
23andMers17215500
23andMe allrs17215500
SNP Nexus

SNPshotrs17215500
SNPdbers17215500
MSV3drs17215500
GWAS Ctlgrs17215500
StatusDeleted
Max Magnitude0
OMIM607542
DescLONG QT SYNDROME 1, RECESSIVE
Variant0020
Relatedalso
ClinVar
Risk rs17215500(G,T;G,T)
Alt rs17215500(G,T;G,T)
Reference rs17215500(C;C)
Significance Other
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome 1, recessive Long QT syndrome Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2790111C>G; NC_000011.9:g.2790111C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000045995.2, RCV000057592.2, RCV000003279.2, RCV000148548.2, RCV000182196.1,


[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.


[PMID 16414944] Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.