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: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		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: 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: 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: 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: 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: 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: 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: 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: 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: C1832232
Disease: Peroxisome Biogenesis Disorder, Complementation Group C
Peroxisome Biogenesis Disorder, Complementation Group C 		0.010 1.000 1 2012 2012
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.090 1.000 9 2013 2019
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.710 1.000 1 2014 2016
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: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2014 2014
dbSNP: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.060 1.000 6 2015 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: rs121913407
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.810 1.000 1 2015 2016
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		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: 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