Source: ALL

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: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.020 1.000 2 2013 2014
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7
0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous
0.700 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 1.000 1 2018 2018
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma
0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023827
Disease: liposarcoma
liposarcoma
0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
0.010 1.000 1 2007 2007
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.010 1.000 1 2010 2010
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
ADENOMAS AND ADENOCARCINOMAS
0.010 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278479
Disease: Stage II Colon Cancer
Stage II Colon Cancer
0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma
0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 1.000 1 2008 2008
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0206696
Disease: Carcinoma, Signet Ring Cell
Carcinoma, Signet Ring Cell
0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 1.000 1 2012 2012
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
0.010 1.000 1 2007 2007