APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.950 20 1997 2007
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.950 20 1997 2007
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.080 0.875 8 2000 2016
dbSNP: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 1998 2002
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 1998 2002
dbSNP: rs459552
rs459552 		0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 1.000 4 2004 2019
dbSNP: rs459552
rs459552 		0.752 0.320 5 112841059 missense variant T/A;G snv 0.79
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2018 2019
dbSNP: rs777980327
rs777980327 		0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2017
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		0.010 1.000 1 2000 2000
dbSNP: rs150973053
rs150973053 		0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs2229995
rs2229995 		0.925 0.080 5 112843098 missense variant G/A snv 2.0E-02 1.7E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs35130225
rs35130225 		5 112780372 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs530670052
rs530670052 		0.925 0.080 5 112801313 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2004 2004
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
Congenital hypertrophy of retinal pigment epithelium 		0.010 1.000 1 2000 2000
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs755229494
rs755229494 		0.776 0.080 5 112761654 intron variant A/G snv 9.6E-04
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019