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: rs587777871
rs587777871
2 0.925 0.080 6 118827925 splice donor variant A/G snv 1.3E-05 0.700 0
dbSNP: rs587777872
rs587777872
3 0.882 0.080 6 118924038 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0