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: rs140267842
rs140267842
1 20 62657241 missense variant G/A snv 7.6E-03 5.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs2236553
rs2236553
1 20 62658391 intron variant C/T snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs7347500
rs7347500
1 20 62656317 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019