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: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 6 1999 2010
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
0.763 0.160 17 7674247 missense variant T/C;G snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
0.700 1.000 1 2016 2016