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rs147484110

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147484110(C;G)
Make rs147484110(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position43774760
GeneCSTB
is asnp
is mentioned by
dbSNPrs147484110
ebirs147484110
HLIrs147484110
Exacrs147484110
Varsomers147484110
Maprs147484110
PheGenIrs147484110
hapmaprs147484110
1000 genomesrs147484110
hgdprs147484110
ensemblrs147484110
gopubmedrs147484110
geneviewrs147484110
scholarrs147484110
googlers147484110
pharmgkbrs147484110
gwascentralrs147484110
openSNPrs147484110
23andMers147484110
23andMe allrs147484110
SNP Nexus

SNPshotrs147484110
SNPdbers147484110
MSV3drs147484110
GWAS Ctlgrs147484110
Max Magnitude0
ClinVar
Risk rs147484110(G;G)
Alt rs147484110(G;G)
Reference rs147484110(C;C)
Significance Pathogenic
Disease Unverricht-Lundborg syndrome not provided Epilepsy
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome not provided Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
Reversed 0
HGVS NC_000021.8:g.45194641C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008903.3, RCV000187278.2, RCV000194700.1,