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: rs1555913337
rs1555913337
1 1.000 0.040 X 40054273 frameshift variant TAGAAGTCCCAAGTGC/- del 0.700 0
dbSNP: rs1555919960
rs1555919960
1 1.000 0.040 X 40074947 frameshift variant -/GT ins 0.700 0
dbSNP: rs780712297
rs780712297
1 1.000 0.040 X 40062856 stop gained C/A;T snv 1.6E-05 0.700 0