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: 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: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 1.000 7 1998 2019
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: rs121913412
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0016048
Disease: Fibromatosis
Fibromatosis 		0.020 1.000 2 2012 2013
dbSNP: rs121913396
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2012 2012
dbSNP: rs121913396
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: 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