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: 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: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C1832232
Disease: Peroxisome Biogenesis Disorder, Complementation Group C
Peroxisome Biogenesis Disorder, Complementation Group C 		0.010 1.000 1 2012 2012
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2293303
rs2293303
CTNNB1
0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
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: 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: rs748653573
rs748653573
CTNNB1
0.882 0.080 3 41238067 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.010 1.000 1 2017 2017
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2016 2017
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2015 2015
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2012 2012
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.010 1.000 1 2017 2017
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
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: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2014 2014
dbSNP: rs4135385
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19
CUI: C1832232
Disease: Peroxisome Biogenesis Disorder, Complementation Group C
Peroxisome Biogenesis Disorder, Complementation Group C 		0.010 1.000 1 2012 2012