COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555303073
rs1555303073
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0029124
Disease:
Optic Atrophy
T 0.700 CausalMutation CLINVAR