L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
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: rs887386390
rs887386390 		0.925 0.120 14 50283990 missense variant T/C snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs72683923
rs72683923 		14 50269229 synonymous variant T/C snv 1.0E-02 9.9E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs72683923
rs72683923 		14 50269229 synonymous variant T/C snv 1.0E-02 9.9E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2019 2019