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: rs372981030
rs372981030
SPG7
1 1.000 0.080 16 89550505 stop gained A/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs72547552
rs72547552
SPG7
1 1.000 0.080 16 89550559 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs746053679
rs746053679
SPG7
1 1.000 0.080 16 89513038 splice donor variant G/A;C;T snv 8.7E-06; 4.4E-06; 8.7E-06 0.700 0
dbSNP: rs748555510
rs748555510
SPG7
1 1.000 0.080 16 89544731 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs766155407
rs766155407
SPG7
1 1.000 0.080 16 89548075 frameshift variant TC/- delins 1.2E-05 7.0E-06 0.700 0
dbSNP: rs768136171
rs768136171
SPG7
2 0.925 0.080 16 89529489 frameshift variant TG/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs775364547
rs775364547
SPG7
1 1.000 0.080 16 89531961 frameshift variant CCCCCGGCTGTGGGAAGACGCTGCTGGCC/- delins 3.5E-05 0.700 0
dbSNP: rs797046003
rs797046003
SPG7
2 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 0
dbSNP: rs864622507
rs864622507
SPG7
1 1.000 0.080 16 89553103 missense variant C/T snv 0.700 0
dbSNP: rs878854606
rs878854606
SPG7
1 1.000 0.080 16 89530794 splice donor variant GATTATCTGAAGGTG/- delins 0.700 0
dbSNP: rs1020764190
rs1020764190
AFG3L2
2 0.925 0.120 18 12351330 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1162419578
rs1162419578
APP
2 0.925 0.160 21 25975126 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs770661102
rs770661102
SPG7
3 0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05 0.010 1.000 1 2019 2019