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

N. diseases: 399; N. variants: 10
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: C0018916
Disease: Hemangioma
Hemangioma
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs121913499
rs121913499
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0018916
Disease: Hemangioma
Hemangioma
Neoplasms 0.020 1.000 2 2011 2013