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: rs386134174
rs386134174
ALS2
2 0.925 0.080 2 201761441 frameshift variant T/- del 0.700 0
dbSNP: rs386134176
rs386134176
ALS2
1 1.000 0.040 2 201757445 frameshift variant CT/- delins 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: rs386134184
rs386134184
ALS2
1 1.000 0.040 2 201726868 splice acceptor variant T/C snv 0.700 0