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: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2012 2014
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
Squamous cell carcinoma of the head and neck
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
Transitional cell carcinoma of bladder
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016