rs145390085, 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.
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 1.000 0.040 14 50269297 missense variant A/G snv 0.010 1.000 1 2016 2016