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: rs730882230
rs730882230
3 1.000 0.080 5 128408688 missense variant C/T snv 0.700 0
dbSNP: rs148636776
rs148636776
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0