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: rs587777716
rs587777716
1 1.000 6 109791543 missense variant A/T snv 0.800 1.000 0 2014 2014
dbSNP: rs776005417
rs776005417
4 0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0