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: 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
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: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0585475
Disease: Pilomatrix carcinoma of skin
Pilomatrix carcinoma of skin 		0.010 1.000 1 2009 2009
dbSNP: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C1336538
Disease: Supratentorial Embryonal Tumor, Not Otherwise Specified
Supratentorial Embryonal Tumor, Not Otherwise Specified 		0.010 1.000 1 2001 2001
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor 		0.010 1.000 1 2015 2015
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		0.010 1.000 1 2009 2009
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: 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