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: rs1114167323
rs1114167323
1 1.000 0.040 2 178584515 frameshift variant GC/- del 0.700 0
dbSNP: rs1114167324
rs1114167324
1 1.000 0.040 2 178590043 stop gained G/C snv 0.700 0
dbSNP: rs1114167333
rs1114167333
1 1.000 0.040 2 178633449 frameshift variant CA/- delins 0.700 0
dbSNP: rs1114167335
rs1114167335
1 1.000 0.040 2 178603919 frameshift variant A/- del 0.700 0
dbSNP: rs1553939749
rs1553939749
1 1.000 0.040 2 178740785 frameshift variant GGGAGATGGTT/- delins 0.700 0
dbSNP: rs761807131
rs761807131
3 0.882 0.160 2 178610089 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs794729356
rs794729356
1 1.000 0.040 2 178557999 frameshift variant C/- del 0.700 0