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: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 1998 1998
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;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: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 1998 1998
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: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;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: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2001 2001
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;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: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		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: C1336538
Disease: Supratentorial Embryonal Tumor, Not Otherwise Specified
Supratentorial Embryonal Tumor, Not Otherwise Specified 		0.010 1.000 1 2001 2001
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.010 1.000 1 2002 2002
dbSNP: rs121913409
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.010 1.000 1 2002 2002
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 1.000 1 2003 2003
dbSNP: rs121913228
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.010 1.000 1 2007 2007
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: rs121913228
rs121913228
CTNNB1
0.742 0.200 3 41224621 missense variant T/C;G snv
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2008 2008
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: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.820 1.000 2 1999 2009
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