SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Source: CLINVAR ×
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: rs1553155982
rs1553155982
1.000 0.040 1 42928996 missense variant T/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018