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: rs3864004
rs3864004
CTNNB1
0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2016 2017
dbSNP: rs3864004
rs3864004
CTNNB1
0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs3864004
rs3864004
CTNNB1
0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs3864004
rs3864004
CTNNB1
0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2016 2016
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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2019 2019
dbSNP: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2015 2015
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: rs4533622
rs4533622
CTNNB1
0.807 0.240 3 41200847 intron variant C/A;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		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: 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: 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: 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: 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: 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: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial 		0.010 1.000 1 2018 2018
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.810 1.000 1 2000 2016
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