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: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs759504704
rs759504704
NARS2
4 0.882 0.200 11 78436786 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs764427452
rs764427452
FARS2
4 0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05 0.010 1.000 1 2014 2014