rs1025426883, L2HGDH

N. diseases: 2
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 0.925 0.120 14 50247167 missense variant A/G snv 0.010 1.000 1 2004 2004
Glutaric aciduria, type 1
CUI: C0268595
Disease: Glutaric aciduria, type 1
112 0.925 0.120 14 50247167 missense variant A/G snv 0.010 1.000 1 2004 2004