Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909118(C;T)
Make rs121909118(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position76174276
GeneSCARB2
is asnp
is mentioned by
dbSNPrs121909118
ebirs121909118
HLIrs121909118
Exacrs121909118
Varsomers121909118
Maprs121909118
PheGenIrs121909118
hapmaprs121909118
1000 genomesrs121909118
hgdprs121909118
ensemblrs121909118
gopubmedrs121909118
geneviewrs121909118
scholarrs121909118
googlers121909118
pharmgkbrs121909118
gwascentralrs121909118
openSNPrs121909118
23andMers121909118
23andMe allrs121909118
SNP Nexus

SNPshotrs121909118
SNPdbers121909118
MSV3drs121909118
GWAS Ctlgrs121909118
Max Magnitude0
OMIM602257
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909118(T;T)
Alt rs121909118(T;T)
Reference rs121909118(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene SCARB2
CLNDBN Epilepsy, progressive myoclonic 4, with or without renal failure
Reversed 1
HGVS NC_000004.11:g.77095429G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007803.3,