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: rs121908139
rs121908139
ALS2
1 1.000 0.080 2 201744285 stop gained G/A snv 0.710 1.000 1 2008 2008
dbSNP: rs386134175
rs386134175
ALS2
1 1.000 0.080 2 201760986 frameshift variant AT/- delins 7.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1060503672
rs1060503672
ALS2
1 1.000 0.080 2 201746749 splice acceptor variant C/T snv 0.700 0
dbSNP: rs121908137
rs121908137
ALS2
1 1.000 0.080 2 201726854 stop gained G/A;T snv 3.9E-04 0.700 0
dbSNP: rs121908138
rs121908138
ALS2
1 1.000 0.080 2 201761524 missense variant C/T snv 0.700 0
dbSNP: rs1553511680
rs1553511680
ALS2
1 1.000 0.080 2 201746643 stop gained G/A snv 0.700 0
dbSNP: rs369577952
rs369577952
ALS2
3 0.882 0.120 2 201757640 stop gained A/C;G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs386134181
rs386134181
ALS2
2 0.925 0.080 2 201746696 frameshift variant AG/- del 1.4E-05 0.700 0
dbSNP: rs386134183
rs386134183
ALS2
1 1.000 0.080 2 201733318 frameshift variant AT/- del 0.700 0
dbSNP: rs386134187
rs386134187
ALS2
1 1.000 0.080 2 201723335 frameshift variant T/- delins 0.700 0
dbSNP: rs386134188
rs386134188
ALS2
1 1.000 0.080 2 201704571 frameshift variant A/- del 0.700 0
dbSNP: rs387906316
rs387906316
ALS2
1 1.000 0.080 2 201754672 splice acceptor variant C/A snv 0.700 0
dbSNP: rs587777132
rs587777132
ALS2
3 0.882 0.120 2 201728592 stop gained G/A;T snv 0.700 0
dbSNP: rs878855058
rs878855058
ALS2
1 1.000 0.080 2 201757445 frameshift variant CTCT/- del 0.700 0
dbSNP: rs878854991
rs878854991
SPAST
5 0.882 0.080 2 32141906 missense variant G/A snv 0.010 1.000 1 2019 2019