Source: CURATED

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: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs121913111
rs121913111
1.000 0.080 4 1803725 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0.923 0 1999 2020
dbSNP: rs121917731
rs121917731
MCC
1.000 0.080 5 113043623 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs121917732
rs121917732
MCC
1.000 0.080 5 113064110 missense variant C/T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
1.000 0.080 MT 8009 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs207459996
rs207459996
CYTB ; ND6
1.000 0.080 MT 15572 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
1.000 0.080 MT 10563 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs28937578
rs28937578
1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs387906555
rs387906555
1.000 0.080 18 53526629 missense variant C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.740 1.000 0 2017 2019
dbSNP: rs1566734
rs1566734
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.730 0.667 0 2005 2019
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 0 2018 2018
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 0 2017 2017
dbSNP: rs121913499
rs121913499
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 0 2014 2014
dbSNP: rs62619935
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 0 2012 2012
dbSNP: rs10414971
rs10414971
1.000 0.080 19 12351131 missense variant G/A snv 1.9E-03 7.8E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1043397364
rs1043397364
1.000 0.080 16 89637349 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1057519739
rs1057519739
1.000 0.080 18 51065518 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1057519895
rs1057519895
0.724 0.240 4 152328232 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1057519925
rs1057519925
0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1057519930
rs1057519930
1.000 0.080 3 179199142 missense variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1057520038
rs1057520038
0.925 0.160 19 1220627 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1114167806
rs1114167806
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs112028242
rs112028242
1.000 0.080 8 144474963 missense variant T/A snv 5.7E-03 2.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0