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: rs1454037218
rs1454037218
2 0.925 0.120 9 136371975 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs398122363
rs398122363
5 0.827 0.120 9 136370380 stop gained G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs767522068
rs767522068
1 1.000 0.080 9 136371438 missense variant G/A snv 2.1E-05 1.4E-05 0.010 1.000 1 2015 2015