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: rs1057519038
rs1057519038
3 0.882 0.120 10 121520076 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs121909631
rs121909631
5 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs1285894726
rs1285894726
3 0.882 0.120 20 38141329 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs746082633
rs746082633
5 0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2002 2002