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: rs398122947
rs398122947
3 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019
dbSNP: rs121912973
rs121912973
3 0.882 0.040 21 43172105 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1227057051
rs1227057051
2 1.000 0.040 21 43172266 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs74315441
rs74315441
3 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008