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: rs119103286
rs119103286
5 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
dbSNP: rs587777807
rs587777807
2 0.925 0.120 14 88870200 splice donor variant TGC/- del 4.0E-06 0.700 0