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: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs761051758
rs761051758
HSPB1
7 0.827 0.160 7 76302805 synonymous variant G/A snv 8.5E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs777949955
rs777949955
HSPB3
5 0.827 0.160 5 54456064 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2008 2008