Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338688
rs80338688
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80338688
rs80338688
SOX9 ; SOX9-AS1
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		G 0.700 CausalMutation CLINVAR