Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1025426883
L2HGDH
0.925 0.120 14 50247167 missense variant A/G snv 2
rs121434368
GCDH ; SYCE2
0.925 0.120 19 12899471 missense variant C/T snv 2
rs1277384196
SYCE2 ; GCDH
0.925 0.120 19 12899507 missense variant T/C snv 4.0E-06 2