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: 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: rs386134173
rs386134173
ALS2
1 1.000 0.080 2 201767266 frameshift variant T/- del 0.700 0
dbSNP: rs386134174
rs386134174
ALS2
2 0.925 0.080 2 201761441 frameshift variant T/- del 0.700 0
dbSNP: rs730882255
rs730882255
ALS2
1 1.000 0.080 2 201744426 stop gained C/A snv 0.700 0
dbSNP: rs730882256
rs730882256
ALS2
1 1.000 0.080 2 201706852 frameshift variant -/C delins 0.700 0
dbSNP: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1226494987
rs1226494987
MATR3
3 0.882 0.080 5 139317091 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs371030047
rs371030047
FUS
3 0.882 0.080 16 31183971 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs587777132
rs587777132
ALS2
3 0.882 0.120 2 201728592 stop gained G/A;T snv 0.010 1.000 1 2014 2014