Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554902760
rs1554902760
Entrez Id: 55280;677800
Gene Symbol: CWF19L1;SNORA12
CWF19L1;SNORA12
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
A 0.700 GeneticVariation CLINVAR
dbSNP: rs587780326
rs587780326
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
T 0.700 CausalMutation CLINVAR
dbSNP: rs879255653
rs879255653
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
A 0.700 CausalMutation CLINVAR
dbSNP: rs879255654
rs879255654
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
CUI: C4015301
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
T 0.700 CausalMutation CLINVAR