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: rs878853161
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0