Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518781
rs1057518781
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
CUI: C4024900
Disease:
Atrophy/Degeneration affecting the brainstem
C 0.700 GeneticVariation CLINVAR