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: rs118203388
rs118203388
1 1.000 0.120 9 132923361 stop gained G/T snv 0.700 0
dbSNP: rs118203427
rs118203427
3 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0
dbSNP: rs118203542
rs118203542
4 0.851 0.200 9 132906053 stop gained G/A snv 0.700 0
dbSNP: rs118203631
rs118203631
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 0
dbSNP: rs1564488264
rs1564488264
3 0.882 0.200 9 132911110 frameshift variant T/- del 0.700 0