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: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0206683
Disease: Papillary and follicular adenocarcinoma
Papillary and follicular adenocarcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.010 1.000 1 2007 2007
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0206704
Disease: Carcinoma, Large Cell
Carcinoma, Large Cell 		0.010 1.000 1 2018 2018
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 < 0.001 1 2018 2018
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		0.010 1.000 1 2015 2015
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.010 1.000 1 2015 2015
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2013 2013
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
Secondary malignant neoplasm of bone 		0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 1.000 1 2018 2018