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: rs121434529
rs121434529
NAGA
3 0.925 0.120 22 42061052 missense variant C/T snv 2.5E-03 2.2E-03 0.810 1.000 8 1975 2004
dbSNP: rs121434532
rs121434532
NAGA ; LOC107985551
1 1.000 0.120 22 42067136 missense variant G/C snv 7.4E-04 5.1E-04 0.800 1.000 2 1990 1996
dbSNP: rs140673721
rs140673721
NAGA
1 1.000 0.120 22 42067764 splice donor variant C/T snv 2.4E-05; 8.0E-06 3.5E-05 0.700 1.000 2 1996 2001
dbSNP: rs779423223
rs779423223
NAGA ; LOC107985551
1 1.000 0.120 22 42065891 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 0