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: rs137852767
rs137852767
2 0.925 0.120 5 251011 missense variant C/T snv 0.700 1.000 3 1995 2015
dbSNP: rs142441643
rs142441643
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs9809219
rs9809219
3 0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0