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: rs1181496880
rs1181496880
2 0.925 0.080 7 50539915 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1285477390
rs1285477390
2 0.925 0.080 7 50539944 missense variant C/T snv 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs137853208
rs137853208
3 0.925 0.080 7 50504025 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs201951824
rs201951824
2 0.925 0.080 7 50476625 missense variant C/T snv 4.8E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs746244631
rs746244631
2 0.925 0.080 7 50539970 missense variant G/A snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs766408460
rs766408460
DDC
2 0.925 0.080 7 50544079 missense variant C/T snv 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs771317809
rs771317809
6 0.925 0.080 7 50470140 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018