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: rs587777288
rs587777288
1 1.000 0.040 14 94769804 frameshift variant AGGCCCGCGCCGCCGGG/- delins 0.700 0
dbSNP: rs587777289
rs587777289
1 1.000 0.040 14 94769173 stop gained G/A;T snv 0.700 0
dbSNP: rs587777290
rs587777290
1 1.000 0.040 14 94769660 splice donor variant C/G snv 0.700 0