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rs142511345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142511345(A;A)
Make rs142511345(A;G)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449261
GeneKCNE1
is asnp
is mentioned by
dbSNPrs142511345
dbSNP (classic)rs142511345
ClinGenrs142511345
ebirs142511345
HLIrs142511345
Exacrs142511345
Gnomadrs142511345
Varsomers142511345
LitVarrs142511345
Maprs142511345
PheGenIrs142511345
Biobankrs142511345
1000 genomesrs142511345
hgdprs142511345
ensemblrs142511345
geneviewrs142511345
scholarrs142511345
googlers142511345
pharmgkbrs142511345
gwascentralrs142511345
openSNPrs142511345
23andMers142511345
SNPshotrs142511345
SNPdbers142511345
MSV3drs142511345
GWAS Ctlgrs142511345
Max Magnitude0
ClinVar
Risk rs142511345(A;A)
Alt rs142511345(A;A)
Reference Rs142511345(G;G)
Significance Other
Disease Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome
Variation info
Gene KCNE1B KCNE1
CLNDBN Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome
Reversed 0
HGVS NC_000021.8:g.35821559G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000119091.2, RCV000148513.2, RCV000150856.1, RCV000321437.1, RCV000376098.1,