IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Glioblastoma, IDH-Mutant ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913500
rs121913500 		0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant 		Neoplasms 0.030 0.667 3 2012 2018
dbSNP: rs11554137
rs11554137 		0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant 		Neoplasms 0.010 1.000 1 2018 2018