Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1028534806
rs1028534806
Entrez Id: 529;83733
Gene Symbol: ATP6V1E1;SLC25A18
ATP6V1E1;SLC25A18
CUI: C4479387
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1028534806
rs1028534806
Entrez Id: 529;83733
Gene Symbol: ATP6V1E1;SLC25A18
ATP6V1E1;SLC25A18
CUI: C4479387
Disease:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		0.800 GeneticVariation UNIPROT