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: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 11 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 9 2004 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 4 2006 2010
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
PIK3CA
0.732 0.240 3 179218307 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016