Source: UNIPROT

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: rs72541816
rs72541816
APC
1.000 0.120 5 112843456 missense variant C/G snv 2.9E-03 3.5E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.720 1.000 0 1997 2001
dbSNP: rs137854567
rs137854567
APC
0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs371113837
rs371113837
APC
1.000 0.120 5 112839469 missense variant C/T snv 8.8E-05 1.0E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs863225349
rs863225349
APC
1.000 0.120 5 112839531 missense variant A/G snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs139196838
rs139196838
APC
1.000 0.120 5 112767263 missense variant C/A;T snv 4.0E-06; 3.9E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 11 1991 2016
dbSNP: rs1291513037
rs1291513037
APC
1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2000 2000
dbSNP: rs28933379
rs28933379
APC
1.000 0.080 5 112838953 missense variant G/A snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 1.000 1 2014 2014
dbSNP: rs878853445
rs878853445
APC
1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2000 2000
dbSNP: rs1400295986
rs1400295986
APC
0.925 0.080 5 112838233 missense variant T/C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 0
dbSNP: rs1400295986
rs1400295986
APC
0.925 0.080 5 112838233 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs372481703
rs372481703
APC
1.000 0.080 5 112839106 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.700 0
dbSNP: rs779998847
rs779998847
APC
1.000 0.080 5 112838262 missense variant G/A snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs863225349
rs863225349
APC
1.000 0.120 5 112839531 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 0
dbSNP: rs869312784
rs869312784
APC
5 112838674 missense variant A/G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 0
dbSNP: rs876658156
rs876658156
APC
1.000 0.120 5 112844109 missense variant C/T snv 7.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 0