rs121913499, IDH1

N. diseases: 40
Source: BEFREE ×
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.
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
247 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 4 2009 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 2 2009 2014
Glioma
CUI: C0017638
Disease: Glioma
283 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 2 2011 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1186 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2014 2014
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
157 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
769 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2016 2017
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
79 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 1 2012 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1571 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.060 1.000 6 2009 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
160 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2009 2011
Hemangioma
CUI: C0018916
Disease: Hemangioma
9 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2011 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
37 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2009 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1441 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2018 2019
melanoma
CUI: C0025202
Disease: melanoma
352 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2010 2018
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
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
10 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
12 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
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
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2011 2011
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
Chondrosarcoma
CUI: C0008479
Disease: Chondrosarcoma
7 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
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
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
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