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.
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
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
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
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
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
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 2 2016 2017
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
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
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
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2009 2018
melanoma
CUI: C0025202
Disease: melanoma
515 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2010 2018
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
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.060 1.000 6 2009 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2018 2019
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
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