Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524

1997
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. 9768646

1998
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956

1997
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930

1997
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs1057517980
rs1057517980
PHEX ; PTCHD1-AS
0.700 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674

1998
dbSNP: rs1057517981
rs1057517981
PHEX ; PTCHD1-AS
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057521800
rs1057521800
PHEX ; PTCHD1-AS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793956
rs1064793956
PHEX
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064796928
rs1064796928
PHEX
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308012
rs1085308012
PHEX
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131691731
rs1131691731
PHEX
T 0.700 CausalMutation CLINVAR

dbSNP: rs11646213
rs11646213 		0.010 GeneticVariation BEFREE The associations between rs11646213 and three BP traits were replicated in combined analyses (dominant model: DBP, P = 5.55 x 10(-5), effect -1.40 mmHg; SBP, P = 0.007, effect -1.56 mmHg; HYP, P = 5.30 x 10(-8), OR = 0.67). 19304780

2009
dbSNP: rs116548533
rs116548533
CYP24A1
0.010 GeneticVariation BEFREE Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia. 29127362

2017
dbSNP: rs121909796
rs121909796
VDR
0.010 GeneticVariation BEFREE Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor. 27864003

2017
dbSNP: rs121909800
rs121909800
VDR
0.010 GeneticVariation BEFREE Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3. 16753019

2006
dbSNP: rs1240767654
rs1240767654
PHEX ; PTCHD1-AS
A 0.700 CausalMutation CLINVAR

dbSNP: rs1269067103
rs1269067103
PHEX ; PHEX-AS1
C 0.700 CausalMutation CLINVAR

dbSNP: rs137853268
rs137853268
PHEX
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956

1997
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs137853269
rs137853269
PHEX
A 0.800 CausalMutation CLINVAR