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: rs121918358
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2016 2016