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: rs727503109
rs727503109
0.752 0.320 12 25245277 missense variant T/C snv
CUI: C4023401
Disease: Abnormality of hair density
Abnormality of hair density
0.700 0
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia
0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0334565
Disease: Adenoameloblastoma
Adenoameloblastoma
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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 1.000 7 2012 2020
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.040 1.000 4 2016 2018
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.020 1.000 2 2016 2016
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
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: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.100 1.000 13 2008 2019
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.730 1.000 5 2014 2019
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 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: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 1.000 1 2017 2017
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 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: C0334279
Disease: Adenocarcinoma, intestinal type
Adenocarcinoma, intestinal type
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: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.700 0
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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0001430
Disease: Adenoma
Adenoma
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: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
ADENOMAS AND ADENOCARCINOMAS
0.010 1.000 1 2013 2013
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.020 1.000 2 2013 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: C0279629
Disease: Adult Acute Monoblastic Leukemia
Adult Acute Monoblastic Leukemia
0.010 1.000 1 2014 2014
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: rs121913238
rs121913238
0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 1.000 1 2012 2012