PHF7, PHD finger protein 7, 51533

N. diseases: 5; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs13094687
rs13094687
Entrez Id: 51533
Gene Symbol: PHF7
PHF7
CUI: C0005586
Disease:
Bipolar Disorder
0.700 GeneticVariation GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
dbSNP: rs1559593339
rs1559593339
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013
dbSNP: rs397509413
rs397509413
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AC 0.700 CausalMutation CLINVAR Hereditary uveal melanoma: a report of a germline mutation in BAP1. 23341325 2013
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
G 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs1559593339
rs1559593339
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 GeneticVariation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs1060503735
rs1060503735
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553646284
rs1553646284
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553646294
rs1553646294
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553646367
rs1553646367
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559593389
rs1559593389
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
G 0.700 CausalMutation CLINVAR
dbSNP: rs397509413
rs397509413
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
A 0.700 CausalMutation CLINVAR
dbSNP: rs916069743
rs916069743
Entrez Id: 8314;51533
Gene Symbol: BAP1;PHF7
BAP1;PHF7
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME
T 0.700 CausalMutation CLINVAR