Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs546127665
rs546127665
Entrez Id: 1535;4597
Gene Symbol: CYBA;MVD
CYBA;MVD
CUI: C3553549
Disease:
POROKERATOSIS 7, MULTIPLE TYPES
0.700 GeneticVariation UNIPROT Genomic variations of the mevalonate pathway in porokeratosis. 26202976 2015
dbSNP: rs546127665
rs546127665
Entrez Id: 1535;4597
Gene Symbol: CYBA;MVD
CYBA;MVD
CUI: C3553549
Disease:
POROKERATOSIS 7, MULTIPLE TYPES
0.700 GeneticVariation UNIPROT Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure. 18823933 2008