Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		C 0.700 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		A 0.700 CausalMutation CLINVAR Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933

2012
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		A 0.700 CausalMutation CLINVAR A human immunodeficiency caused by mutations in the PIK3R1 gene. 25133428

2014
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		C 0.700 CausalMutation CLINVAR A human immunodeficiency caused by mutations in the PIK3R1 gene. 25133428

2014
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		C 0.700 CausalMutation CLINVAR Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 25488983

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR PIK3R1 mutations in SHORT syndrome. 23980586

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 28632845

2017
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 23810379

2013
dbSNP: rs1561299903
rs1561299903
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		CT 0.700 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs1561299903
rs1561299903
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		CT 0.700 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
dbSNP: rs1561299903
rs1561299903
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		CT 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
dbSNP: rs1554051075
rs1554051075
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554051075
rs1554051075
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554051067
rs1554051067
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554051033
rs1554051033
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519838
rs1057519838
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519841
rs1057519841
PIK3R1
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: rs773686816
rs773686816
PIK3R1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.700 GeneticVariation CLINVAR The structural basis of PI3K cancer mutations: from mechanism to therapy. 24459181

2014