Source: BEFREE

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: rs1798802
rs1798802
CTNNB1
3 41220488 intron variant A/G snv 0.43
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs1798802
rs1798802
CTNNB1
3 41220488 intron variant A/G snv 0.43
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs768012106
rs768012106
CTNNB1
1.000 3 41239145 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2017 2017
dbSNP: rs1057519837
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2011 2014
dbSNP: rs1131692181
rs1131692181
CTNNB1
0.925 0.040 3 41234286 stop gained C/T snv
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 1.000 1 2019 2019
dbSNP: rs1171472831
rs1171472831
CTNNB1
1.000 0.040 3 41224664 missense variant A/G snv 4.0E-06
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.010 1.000 1 2015 2015
dbSNP: rs2953
rs2953
CTNNB1
0.925 0.040 3 41239897 3 prime UTR variant T/G snv 0.41
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs2953
rs2953
CTNNB1
0.925 0.040 3 41239897 3 prime UTR variant T/G snv 0.41
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2019 2019
dbSNP: rs370662884
rs370662884
CTNNB1
0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2008 2014
dbSNP: rs1057519379
rs1057519379
CTNNB1
0.882 0.080 3 41233777 frameshift variant -/C ins
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2017 2017
dbSNP: rs11564475
rs11564475
CTNNB1
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs11564475
rs11564475
CTNNB1
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
dbSNP: rs11564475
rs11564475
CTNNB1
0.882 0.080 3 41238542 intron variant A/G snv 3.7E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs13072632
rs13072632
CTNNB1
0.925 0.080 3 41220953 5 prime UTR variant T/C snv 0.41
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: rs13072632
rs13072632
CTNNB1
0.925 0.080 3 41220953 5 prime UTR variant T/C snv 0.41
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs139085081
rs139085081
CTNNB1
1.000 0.080 3 41225436 missense variant C/T snv 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs1880481
rs1880481
CTNNB1
0.925 0.080 3 41230590 intron variant C/A snv 0.40
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
dbSNP: rs1880481
rs1880481
CTNNB1
0.925 0.080 3 41230590 intron variant C/A snv 0.40
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs370662884
rs370662884
CTNNB1
0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 1.000 1 2003 2003
dbSNP: rs370662884
rs370662884
CTNNB1
0.925 0.080 3 41225816 synonymous variant G/A snv 3.2E-05 4.9E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008