rs121913530, KRAS

N. diseases: 63
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Papillary and follicular adenocarcinoma
CUI: C0206683
Disease: Papillary and follicular adenocarcinoma
2 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Papillary carcinoma, clear cell
CUI: C1720430
Disease: Papillary carcinoma, clear cell
2 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Poorly differentiated carcinoma
CUI: C0741899
Disease: Poorly differentiated carcinoma
2 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Endocardial Cushion Defects
CUI: C0014116
Disease: Endocardial Cushion Defects
4 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Carcinoma, Large Cell
CUI: C0206704
Disease: Carcinoma, Large Cell
6 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Sebaceous adenoma
CUI: C1368816
Disease: Sebaceous adenoma
6 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Gestational Trophoblastic Neoplasms
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
7 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2004 2004
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
8 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Split hand foot deformity 1
CUI: C2931019
Disease: Split hand foot deformity 1
8 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Mucinous Adenocarcinoma
CUI: C0007130
Disease: Mucinous Adenocarcinoma
10 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Primary cholangiocarcinoma of intrahepatic biliary tract
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
10 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Neurilemmoma
CUI: C0027809
Disease: Neurilemmoma
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
Thyroid Nodule
CUI: C0040137
Disease: Thyroid Nodule
17 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
polyps
CUI: C0032584
Disease: polyps
18 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2014 2014
Secondary malignant neoplasm of bone
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
18 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
B-CELL MALIGNANCY, LOW-GRADE
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
19 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
19 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Congenital arteriovenous malformation
CUI: C0003857
Disease: Congenital arteriovenous malformation
23 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
23 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
28 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
Multiple polyps
CUI: C0334108
Disease: Multiple polyps
32 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1 2018 2018
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
34 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
36 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2014 2015