Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 11 2004 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 9 2004 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 1.000 2 2005 2012
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.700 1.000 1 2014 2014
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
Transitional cell carcinoma of bladder
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum
0.700 0
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.700 0
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
0.700 0
dbSNP: rs121913286
rs121913286
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.700 0