MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555742162
rs1555742162
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
CUI: C0238286
Disease:
Mucolipidosis Type IV
C 0.700 GeneticVariation CLINVAR