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rs281865421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACCCTG;ACCCTG) 0 common in clinvar
Make rs281865421(ACCCTG;CCCCCT)
Make rs281865421(CCCCCT;CCCCCT)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449458
GeneKCNE1
is asnp
is mentioned by
dbSNPrs281865421
ebirs281865421
HLIrs281865421
Exacrs281865421
Varsomers281865421
Maprs281865421
PheGenIrs281865421
hapmaprs281865421
1000 genomesrs281865421
hgdprs281865421
ensemblrs281865421
gopubmedrs281865421
geneviewrs281865421
scholarrs281865421
googlers281865421
pharmgkbrs281865421
gwascentralrs281865421
openSNPrs281865421
23andMers281865421
23andMe allrs281865421
SNP Nexus

SNPshotrs281865421
SNPdbers281865421
MSV3drs281865421
GWAS Ctlgrs281865421
Max Magnitude0
ClinVar
Risk rs281865421(CCCCCT;CCCCCT)
Alt rs281865421(CCCCCT;CCCCCT)
Reference rs281865421(ACCCTG;ACCCTG)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 2
Variation info
Gene KCNE1
CLNDBN Jervell and Lange-Nielsen syndrome 2
Reversed 1
HGVS NC_000021.8:g.35821756_35821761delCAGGGTinsAGGGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014417.25,