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: rs1187393388
rs1187393388
1 1.000 0.120 2 47800567 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs587779930
rs587779930
1 1.000 0.120 2 47801083 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs63751127
rs63751127
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020