Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10182825
rs10182825
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C1836232
Disease:
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		A 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs10182825
rs10182825
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C1836231
Disease:
HIV-1, RESISTANCE TO 		A 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs10182825
rs10182825
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C1836233
Disease:
AIDS, PROGRESSION TO 		A 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs10182825
rs10182825
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C1836230
Disease:
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		A 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs10182825
rs10182825
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C0376705
Disease:
Viral Load result 		A 0.700 GeneticVariation GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
dbSNP: rs1114167429
rs1114167429
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2228530
rs2228530
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4529962
Disease:
Fatty Liver Disease 		0.010 GeneticVariation BEFREE To explore subclinical fatty liver disease (FLD) in donors as a possible mechanism leading to FLD in recipients of living donor liver transplantation (LDLT), we extracted thirty donor-recipient pairs' serum DNA and explored the presence of CYP2R1 single nucleotide polymorphism (SNP) rs10741657 and vitamin D receptor (VDR) SNP rs2228530 A/G alleles using real-time polymerase chain reaction. 29750155 2018
dbSNP: rs4372836
rs4372836
Entrez Id: 5500;112267877
Gene Symbol: PPP1CB;LOC112267877
PPP1CB;LOC112267877
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
dbSNP: rs4372836
rs4372836
Entrez Id: 5500;112267877
Gene Symbol: PPP1CB;LOC112267877
PPP1CB;LOC112267877
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs6547872
rs6547872
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7579277
rs7579277
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. 30368668 2019
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. 27681385 2016
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.800 GeneticVariation UNIPROT Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair. 27868344 2017
dbSNP: rs886037952
rs886037952
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C1834120
Disease:
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) 		0.010 GeneticVariation BEFREE The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
dbSNP: rs886037953
rs886037953
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.700 GeneticVariation UNIPROT The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. 28211982 2017
dbSNP: rs886037953
rs886037953
Entrez Id: 5500;245711
Gene Symbol: PPP1CB;SPDYA
PPP1CB;SPDYA
CUI: C4479577
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 		0.700 GeneticVariation UNIPROT A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. 27264673 2016