rs1057519925, PIK3CA

N. diseases: 23
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.
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
118 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
142 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
152 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
314 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
2 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Congenital hemihypertrophy
CUI: C0332890
Disease: Congenital hemihypertrophy
2 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
47 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
15 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Hemimegalencephaly
CUI: C0431391
Disease: Hemimegalencephaly
4 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Large for gestational age
CUI: C1848395
Disease: Large for gestational age
10 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Macrocephaly at birth
CUI: C1836599
Disease: Macrocephaly at birth
6 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Megalencephaly cutis marmorata telangiectatica congenita
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
9 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
11 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
19 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0