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rs121909119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909119(A;A)
Make rs121909119(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position76179596
GeneSCARB2
is asnp
is mentioned by
dbSNPrs121909119
ebirs121909119
HLIrs121909119
Exacrs121909119
Varsomers121909119
Maprs121909119
PheGenIrs121909119
hapmaprs121909119
1000 genomesrs121909119
hgdprs121909119
ensemblrs121909119
gopubmedrs121909119
geneviewrs121909119
scholarrs121909119
googlers121909119
pharmgkbrs121909119
gwascentralrs121909119
openSNPrs121909119
23andMers121909119
23andMe allrs121909119
SNP Nexus

SNPshotrs121909119
SNPdbers121909119
MSV3drs121909119
GWAS Ctlgrs121909119
Max Magnitude0
OMIM602257
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909119(A;A)
Alt rs121909119(A;A)
Reference rs121909119(G;G)
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.77100749C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007804.3,