Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225094
rs863225094
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 GeneticVariation UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs863225094
rs863225094
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 GeneticVariation UNIPROT B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
dbSNP: rs786205227
rs786205227
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs786205227
rs786205227
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205227
rs786205227
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205228
rs786205228
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205228
rs786205228
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.800 GeneticVariation UNIPROT
dbSNP: rs863225094
rs863225094
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C4225352
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0007112
Disease:
Adenocarcinoma of prostate 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0280630
Disease:
Uterine Carcinosarcoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0009404
Disease:
Colorectal Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0279663
Disease:
Serous cystadenocarcinoma ovary 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0278701
Disease:
Gastric Adenocarcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0280630
Disease:
Uterine Carcinosarcoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519946
rs1057519946
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0279663
Disease:
Serous cystadenocarcinoma ovary 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016