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: rs727502902
rs727502902
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 6 2009 2012
dbSNP: rs121913289
rs121913289
1.000 0.080 10 87958013 frameshift variant A/- delins
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 10 2004 2012
dbSNP: rs1057519928
rs1057519928
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs281875324
rs281875324
1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 7 1996 2007
dbSNP: rs1057520002
rs1057520002
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.790 0.970 24 2002 2019
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: 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: 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: rs1057519927
rs1057519927
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
0.763 0.360 17 7675191 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
0.752 0.240 17 7673799 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121918465
rs121918465
0.827 0.200 12 112450407 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
0.752 0.240 17 7674257 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs760043106
rs760043106
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs765848205
rs765848205
0.763 0.240 17 7674253 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
0.701 0.280 17 7675125 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
0.716 0.320 17 7674263 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs876660333
rs876660333
0.742 0.360 17 7673805 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
0.689 0.400 17 7675075 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 1 2016 2016