Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs775162839
rs775162839
UGDH
1.000 0.040 4 39505705 missense variant C/T snv 4.8E-05 5.6E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 1.000 1 2020 2020