Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1555791268
rs1555791268
PPP2R1A
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786205228
rs786205228
PPP2R1A
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs786205228
rs786205228
PPP2R1A
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs786205228
rs786205228
PPP2R1A
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs786205228
rs786205228
PPP2R1A
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C0431447
Disease: Synophrys
Synophrys 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
Impaired use of nonverbal behaviors 		A 0.700 CausalMutation CLINVAR