rs267606759, D2HGDH

N. diseases: 3
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.
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
15 0.882 0.120 2 241751371 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.800 0
Combined D-2- and L-2-hydroxyglutaric aciduria
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
14 0.882 0.120 2 241751371 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2006 2006
D-2-hydroxyglutaric aciduria
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
6 0.882 0.120 2 241751371 missense variant G/A;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2006 2006