rs121913502, IDH2

N. diseases: 6
Source: CLINVAR ×
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.
D-2-HYDROXYGLUTARIC ACIDURIA 2
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
2 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.800 1.000 2 2010 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
141 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.780 1.000 10 2010 2019
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.720 1.000 1 2010 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
76 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
179 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.700 1.000 1 2016 2016