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
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
Chondrosarcoma
CUI: C0008479
Disease: Chondrosarcoma
8 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
Sinonasal undifferentiated carcinoma
CUI: C1710096
Disease: Sinonasal undifferentiated carcinoma
8 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
Adult Fibrosarcoma
CUI: C0278595
Disease: Adult Fibrosarcoma
9 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
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
Vascular lesions
CUI: C1402315
Disease: Vascular lesions
9 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
Primary cholangiocarcinoma of intrahepatic biliary tract
CUI: C4284013
Disease: 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
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
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
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
Secondary malignant neoplasm of lung
CUI: C0153676
Disease: 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
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2011 2013
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
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
30 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
32 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
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
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
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2009 2009
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
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 4 2009 2014
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
72 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
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
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 2 2012 2016