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: rs1057519961
rs1057519961
4 0.851 0.240 2 197402759 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs754688962
rs754688962
5 0.851 0.200 2 197402637 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs755415626
rs755415626
2 0.925 0.200 2 197401887 missense variant C/T snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs775623976
rs775623976
4 0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs559063155
rs559063155
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2019 2019