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: rs1114167806
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs1553368590
rs1553368590
MSH2
0.882 0.200 2 47475097 missense variant T/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs587779157
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs63751207
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs869312768
rs869312768
MSH2
0.925 0.160 2 47429865 frameshift variant -/TT delins
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs4987188
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2017 2017
dbSNP: rs63750875
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2003 2003
dbSNP: rs730881756
rs730881756
MSH2
0.925 0.080 2 47445653 missense variant A/C;G snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2015 2015