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: rs538312081
rs538312081
1 1.000 0.080 7 45914942 missense variant G/A;C snv 1.6E-05 0.700 0
dbSNP: rs2854746
rs2854746
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.050 0.400 5 2007 2018
dbSNP: rs2854744
rs2854744
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.040 0.500 4 2007 2018
dbSNP: rs3110697
rs3110697
7 0.827 0.160 7 45915430 intron variant A/G snv 0.58 0.010 1.000 1 2013 2013