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

rs386833443

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833443(A;A)
Make rs386833443(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43776204
GeneCSTB
is asnp
is mentioned by
dbSNPrs386833443
ebirs386833443
HLIrs386833443
Exacrs386833443
Varsomers386833443
Maprs386833443
PheGenIrs386833443
hapmaprs386833443
1000 genomesrs386833443
hgdprs386833443
ensemblrs386833443
gopubmedrs386833443
geneviewrs386833443
scholarrs386833443
googlers386833443
pharmgkbrs386833443
gwascentralrs386833443
openSNPrs386833443
23andMers386833443
23andMe allrs386833443
SNP Nexus

SNPshotrs386833443
SNPdbers386833443
MSV3drs386833443
GWAS Ctlgrs386833443
Max Magnitude0
ClinVar
Risk rs386833443(A;A)
Alt rs386833443(A;A)
Reference rs386833443(G;G)
Significance Other
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45196085C>T
CLNSRC ClinVar
CLNACC RCV000049370.1,


[PMID 22154554] Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.