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: rs12936442
rs12936442
1 1.000 0.040 17 3029815 intron variant C/T snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2015 2015
dbSNP: rs802047
rs802047
1 1.000 0.040 7 87328469 intron variant T/C snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs850807
rs850807
3 0.882 0.040 15 23652982 intergenic variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs941898
rs941898
EVL
1 1.000 0.040 14 100133100 intron variant G/T snv 0.81 0.010 1.000 1 2011 2011