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: rs141659620
rs141659620
SPG7
5 0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 0.800 1.000 16 1998 2016
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.800 1.000 8 2006 2016
dbSNP: rs121918357
rs121918357
SPG7
1 1.000 0.080 16 89553932 missense variant G/A;C snv 0.800 1.000 5 1998 2016
dbSNP: rs267607085
rs267607085
SPG7
1 1.000 0.080 16 89550579 missense variant G/C snv 0.800 1.000 5 1998 2016
dbSNP: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 1.000 9 2001 2016
dbSNP: rs760818649
rs760818649
SPG7
2 0.925 0.080 16 89531963 frameshift variant C/-;CC delins 0.700 1.000 6 2008 2015
dbSNP: rs752623413
rs752623413
SPG7
1 1.000 0.080 16 89556933 missense variant T/C snv 5.2E-05 5.6E-05 0.700 1.000 5 2008 2016
dbSNP: rs121918358
rs121918358
SPG7
5 0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 0.700 1.000 4 2008 2016
dbSNP: rs72547551
rs72547551
SPG7
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 4 2004 2016
dbSNP: rs369227537
rs369227537
SPG7
2 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 3 2012 2016
dbSNP: rs1229749476
rs1229749476
SPG7
1 1.000 0.080 16 89548001 splice acceptor variant A/G snv 0.700 1.000 2 2011 2012
dbSNP: rs568556987
rs568556987
SPG7
1 1.000 0.080 16 89553792 splice acceptor variant A/G snv 1.6E-05; 4.0E-06 0.700 1.000 2 2011 2012
dbSNP: rs747503698
rs747503698
SPG7
1 1.000 0.080 16 89553952 frameshift variant -/T delins 4.4E-05 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs748255454
rs748255454
SPG7
1 1.000 0.080 16 89554495 frameshift variant GCTGGTGGCCAAGGCCT/- delins 2.8E-05 0.700 1.000 1 2012 2012
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
dbSNP: rs752989523
rs752989523
SPG7
5 0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs768595656
rs768595656
SPG7
1 1.000 0.080 16 89529568 frameshift variant TT/C;T delins 8.0E-06 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs774774648
rs774774648
SPG7
1 1.000 0.080 16 89526347 stop gained C/T snv 8.0E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
SPG7
5 0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs879253798
rs879253798
SPG7
3 1.000 0.080 16 89524099 frameshift variant TC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1060503425
rs1060503425
SPG7
1 1.000 0.080 16 89531961 frameshift variant GG/AGC delins 0.700 0
dbSNP: rs1217391623
rs1217391623
SPG7
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs1412575396
rs1412575396
SPG7
1 1.000 0.080 16 89529580 splice donor variant G/C;T snv 7.0E-06 0.700 0
dbSNP: rs1567934754
rs1567934754
SPG7
1 1.000 0.080 16 89554484 splice acceptor variant A/G snv 0.700 0
dbSNP: rs368373840
rs368373840
SPG7
1 1.000 0.080 16 89531949 missense variant G/A;C snv 3.6E-05 3.5E-05 0.700 0