Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143697995
rs143697995
Entrez Id: 65080
Gene Symbol: MRPL44
MRPL44
CUI: C3809339
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
0.800 GeneticVariation UNIPROT
dbSNP: rs143697995
rs143697995
Entrez Id: 65080
Gene Symbol: MRPL44
MRPL44
CUI: C3809339
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
G 0.800 CausalMutation CLINVAR
dbSNP: rs143697995
rs143697995
Entrez Id: 65080
Gene Symbol: MRPL44
MRPL44
CUI: C3809339
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
G 0.800 GeneticVariation CLINVAR