Disease: BARDET-BIEDL SYNDROME 16 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515337
rs397515337
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease:
BARDET-BIEDL SYNDROME 16 		T 0.700 CausalMutation CLINVAR Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
dbSNP: rs397515337
rs397515337
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C3889474
Disease:
BARDET-BIEDL SYNDROME 16 		T 0.700 CausalMutation CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010