rs121913279, PIK3CA

N. diseases: 45
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
14 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
CLAPO Syndrome
CUI: C2751313
Disease: CLAPO Syndrome
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 0 2018 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
100 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.820 1.000 0 2005 2016
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 0 2012 2012
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
3 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
98 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
58 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Macrodactyly of toe
CUI: C0158768
Disease: Macrodactyly of toe
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
MACRODACTYLY, SOMATIC
CUI: C4749056
Disease: MACRODACTYLY, SOMATIC
1 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
PIK3CA related overgrowth spectrum
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
8 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Rosette-forming glioneuronal neoplasm
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
2 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
5 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 0 2007 2007
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
47 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0