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rs386833441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833441(A;G)
Make rs386833441(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774332
GeneCSTB
is asnp
is mentioned by
dbSNPrs386833441
ebirs386833441
HLIrs386833441
Exacrs386833441
Varsomers386833441
Maprs386833441
PheGenIrs386833441
hapmaprs386833441
1000 genomesrs386833441
hgdprs386833441
ensemblrs386833441
gopubmedrs386833441
geneviewrs386833441
scholarrs386833441
googlers386833441
pharmgkbrs386833441
gwascentralrs386833441
openSNPrs386833441
23andMers386833441
23andMe allrs386833441
SNP Nexus

SNPshotrs386833441
SNPdbers386833441
MSV3drs386833441
GWAS Ctlgrs386833441
Max Magnitude0
ClinVar
Risk rs386833441(G;G)
Alt rs386833441(G;G)
Reference rs386833441(A;A)
Significance Other
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194213T>C
CLNSRC ClinVar
CLNACC RCV000049368.1,


[PMID 9012407OA-icon.png] Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).