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: rs104893892
rs104893892
GM2A
1 1.000 0.120 5 151267375 missense variant G/A;C;T snv 9.5E-05; 4.0E-06 0.800 1.000 3 1991 1996
dbSNP: rs137852797
rs137852797
GM2A
1 1.000 0.120 5 151266899 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 3 1991 1996
dbSNP: rs1057519021
rs1057519021
GM2A
2 0.925 0.120 5 151267341 stop gained G/T snv 0.710 1.000 1 2016 2016
dbSNP: rs104893897
rs104893897
GM2A
1 1.000 0.120 5 151259833 stop gained G/T snv 0.700 0
dbSNP: rs1057519022
rs1057519022
GM2A
1 1.000 0.120 5 151266729 splice acceptor variant A/T snv 0.700 0
dbSNP: rs730882196
rs730882196
GM2A
1 1.000 0.120 5 151259837 missense variant C/T snv 0.700 0
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012