Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312901
rs869312901
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs869312901
rs869312901
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome
0.800 GeneticVariation UNIPROT