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: rs864309653
rs864309653
1 1.000 12 88518757 frameshift variant TATGATGGAATAATTACT/A delins 0.700 0
dbSNP: rs864309654
rs864309654
1 1.000 12 88518858 inframe deletion AAT/- del 0.700 0