Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia. 28698609

2017
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. 17970811

2008
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. 9005998

1997
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. 8961271

1996
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. 8675579

1996
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures. 7828346

1994
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain. 8106618

1994
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets. 8381803

1993
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. 8392085

1993
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. 1652893

1991
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3. 2177843

1990
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		0.800 GeneticVariation UNIPROT Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. 2849209

1988
dbSNP: rs267607169
rs267607169
VDR
CUI: C0342646
Disease: Vitamin D-Dependent Rickets, Type 2A
Vitamin D-Dependent Rickets, Type 2A 		T 0.800 CausalMutation CLINVAR