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rs386833440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833440(A;A)
Make rs386833440(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position43774658
GeneCSTB
is asnp
is mentioned by
dbSNPrs386833440
ebirs386833440
HLIrs386833440
Exacrs386833440
Varsomers386833440
Maprs386833440
PheGenIrs386833440
hapmaprs386833440
1000 genomesrs386833440
hgdprs386833440
ensemblrs386833440
gopubmedrs386833440
geneviewrs386833440
scholarrs386833440
googlers386833440
pharmgkbrs386833440
gwascentralrs386833440
openSNPrs386833440
23andMers386833440
23andMe allrs386833440
SNP Nexus

SNPshotrs386833440
SNPdbers386833440
MSV3drs386833440
GWAS Ctlgrs386833440
Max Magnitude0
ClinVar
Risk rs386833440(A;A)
Alt rs386833440(A;A)
Reference rs386833440(G;G)
Significance Other
Disease Unverricht-Lundborg syndrome
Variation info
Gene CSTB
CLNDBN Unverricht-Lundborg syndrome
Reversed 1
HGVS NC_000021.8:g.45194539C>T
CLNSRC ClinVar
CLNACC RCV000049367.1,


[PMID 11814737] Unverricht-Lundborg disease with cystatin B gene abnormalities.