Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784325
rs587784325
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs515726151
rs515726151
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs515726150
rs515726150
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs515726149
rs515726149
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs398122385
rs398122385
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		AC 0.700 CausalMutation CLINVAR

dbSNP: rs398122384
rs398122384
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs397509384
rs397509384
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR

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: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.700 CausalMutation CLINVAR

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

dbSNP: rs1057519838
rs1057519838
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		C 0.700 GeneticVariation CLINVAR Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug design. 19962457

2010
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.700 GeneticVariation CLINVAR Somatic mutations in PI3Kalpha: structural basis for enzyme activation and drug design. 19962457

2010
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C3554689
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 		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 Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933

2012
dbSNP: rs587777709
rs587777709
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		A 0.700 CausalMutation CLINVAR Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933

2012
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
dbSNP: rs397515453
rs397515453
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		T 0.820 CausalMutation CLINVAR Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome). 23810379

2013
dbSNP: rs397514047
rs397514047
PIK3R1
CUI: C0878684
Disease: SHORT syndrome
SHORT syndrome 		A 0.800 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013