Gene: IFT27 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569077441
rs1569077441
IFT27
C 0.700 CausalMutation CLINVAR Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 30761183

2019
dbSNP: rs780659194
rs780659194
IFT27 ; LOC105373021
A 0.700 CausalMutation CLINVAR Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 30761183

2019