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: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0346056
Disease: Neuromuscular hamartoma
Neuromuscular hamartoma 		0.010 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2018 2018
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2019 2019
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 1998 1998
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.010 1.000 1 2015 2015
dbSNP: rs121913413
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 1999 1999
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: 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: 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: 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