SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: Shprintzen-Goldberg syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907305
rs387907305
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907305
rs387907305
Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1321551
Disease:
Shprintzen-Goldberg syndrome 		A 0.700 CausalMutation CLINVAR