Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
GT 0.700 CausalMutation CLINVAR Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 29127258

2018
dbSNP: rs4646536
rs4646536
CYP27B1
0.010 GeneticVariation BEFREE We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. 30887870

2019
dbSNP: rs9536282
rs9536282
KL
0.010 GeneticVariation BEFREE We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. 30887870

2019