Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930

1997
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524

1997
dbSNP: rs137853269
rs137853269
PHEX
0.800 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: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674

1998
dbSNP: rs137853269
rs137853269
PHEX
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524

1997
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 10439971

1999
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
C 0.800 CausalMutation CLINVAR

dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930

1997
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674

1998
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991

2000
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956

1997
dbSNP: rs137853270
rs137853270
PHEX ; PTCHD1-AS
0.800 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: rs137853271
rs137853271
PHEX ; PTCHD1-AS
T 0.700 CausalMutation CLINVAR

dbSNP: rs139280106
rs139280106
RELB
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: rs1400504292
rs1400504292
PHEX ; PTCHD1-AS
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556010757
rs1556010757
PHEX
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1556012055
rs1556012055
PHEX
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556012094
rs1556012094
PHEX
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556012100
rs1556012100
PHEX
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556014263
rs1556014263
PHEX
T 0.700 CausalMutation CLINVAR

dbSNP: rs1556014287
rs1556014287
PHEX
0.800 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524

1997
dbSNP: rs1556014287
rs1556014287
PHEX
0.800 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247

2000
dbSNP: rs1556014287
rs1556014287
PHEX
0.800 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