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: 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
dbSNP: rs121913399
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.710 1.000 1 2009 2014
dbSNP: rs121913399
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs121913399
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs121913399
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0585475
Disease: Pilomatrix carcinoma of skin
Pilomatrix carcinoma of skin 		0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0585475
Disease: Pilomatrix carcinoma of skin
Pilomatrix carcinoma of skin 		0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		0.010 1.000 1 2009 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0010276
Disease: Craniopharyngioma
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: 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: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.710 1.000 1 2009 2014
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: 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: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		0.710 1.000 1 2009 2014
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2011 2019
dbSNP: rs1057519837
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2011 2014
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		0.010 1.000 1 2011 2011
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: 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: 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