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: rs1057518813
rs1057518813
8 0.801 0.143 13 102873308 frameshift variant TCT/T in-del 0.700 1 2015 2015
dbSNP: rs1057518907
rs1057518907
8 0.878 0.179 20 58891811 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs372445155
rs372445155
10 0.784 0.250 18 23554890 missense variant G/A snp 1.6E-05 0.700 1 2015 2015