Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113288656
rs113288656
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
CUI: C1519383
Disease:
Smoking Behaviors 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs113288656
rs113288656
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
CUI: C0037369
Disease:
Smoking 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs73198917
rs73198917
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
CUI: C0037369
Disease:
Smoking 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs73198917
rs73198917
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
CUI: C1519383
Disease:
Smoking Behaviors 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs3752433
rs3752433
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0001807
Disease:
Aggressive behavior 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of proneness to anger. 24489884 2014
dbSNP: rs3752433
rs3752433
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0002957
Disease:
Anger 		A 0.700 GeneticVariation GWASDB Genome-wide association study of proneness to anger. 24489884 2014
dbSNP: rs5925651
rs5925651
Entrez Id: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
CUI: C0009447
Disease:
Common Variable Immunodeficiency 		0.700 GeneticVariation GWASDB Genome-wide association identifies diverse causes of common variable immunodeficiency. 21497890 2011
dbSNP: rs1569442206
rs1569442206
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		T 0.700 GeneticVariation CLINVAR PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. 19219621 2009
dbSNP: rs1057517980
rs1057517980
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs1057517980
rs1057517980
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. 11004247 2000
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. 10737991 2000
dbSNP: rs1057517980
rs1057517980
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Mutational analysis of PHEX gene in X-linked hypophosphatemia. 9768674 1998
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		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
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524 1997
dbSNP: rs1057517980
rs1057517980
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956 1997
dbSNP: rs1057517980
rs1057517980
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930 1997
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. 9106524 1997
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). 9097956 1997
dbSNP: rs1556151526
rs1556151526
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		0.700 GeneticVariation UNIPROT Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. 9199930 1997
dbSNP: rs1057517981
rs1057517981
Entrez Id: 5251;100873065
Gene Symbol: PHEX;PTCHD1-AS
PHEX;PTCHD1-AS
CUI: C0733682
Disease:
Hypophosphatemic Rickets, X-Linked Dominant 		C 0.700 CausalMutation CLINVAR