Source: ALL

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: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 1995 2017
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 3 2014 2014
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 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: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 1.000 1 2008 2008
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2008 2008
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2008 2008
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 1.000 1 2008 2008
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 1.000 1 2008 2008
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2008 2008