CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.810 GeneticVariation BEFREE The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1. 9012407 1997
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.810 GeneticVariation UNIPROT The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1. 9012407 1997
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.810 CausalMutation CLINVAR