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: rs1563083759
rs1563083759
6 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
dbSNP: rs763944786
rs763944786
5 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0