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: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 0.909 22 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 1.000 20 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 1.000 16 2006 2019
dbSNP: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 14 2006 2018
dbSNP: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 14 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.740 1.000 14 2004 2016
dbSNP: rs867262025
rs867262025
0.790 0.360 3 179221146 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 14 2006 2018
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.710 1.000 13 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 13 2004 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2004 2016
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 12 2004 2014
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 12 2004 2016
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2004 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 11 2004 2012
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 11 2004 2012
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: rs397517201
rs397517201
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: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.900 10 2009 2019
dbSNP: rs1057519699
rs1057519699
3 179218315 missense variant G/A snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 10 2004 2012
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 10 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.090 1.000 9 2012 2018
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: rs397517201
rs397517201
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: rs1057519699
rs1057519699
3 179218315 missense variant G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 8 2004 2012