rs121913499, IDH1

N. diseases: 51
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.
Clear Cell Hepatocellular Carcinoma
CUI: C1333067
Disease: Clear Cell Hepatocellular Carcinoma
1 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2014 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Enchondroma
CUI: C1704356
Disease: Enchondroma
13 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
Fibrosarcoma
CUI: C0016057
Disease: Fibrosarcoma
9 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
Intrahepatic Cholangiocarcinoma
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
19 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
32 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2020 2020
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Neoplasms, Vascular Tissue
CUI: C0027668
Disease: Neoplasms, Vascular Tissue
1 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
Primary cholangiocarcinoma of intrahepatic biliary tract
10 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2020 2020
Secondary malignant neoplasm of lung
20 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
Sinonasal undifferentiated carcinoma
8 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Spindle cell hemangioma
CUI: C1304508
Disease: Spindle cell hemangioma
10 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
Transitional cell carcinoma of bladder
158 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016