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: rs1567939793
rs1567939793
1 17 74920024 frameshift variant G/- delins 0.700 0
dbSNP: rs201866631
rs201866631
4 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0