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: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1193124736
rs1193124736
APP
4 0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs730882262
rs730882262
LMNA
4 0.851 0.160 1 156135293 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs769985775
rs769985775
DMD
6 0.851 0.160 X 32448630 synonymous variant T/C snv 5.7E-06 9.5E-06 0.010 1.000 1 2017 2017