Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748309520
rs748309520
SPG7
5 0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016