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: rs1057521070
rs1057521070
3 0.925 0.200 18 55228999 missense variant C/T snv 0.700 1.000 22 2007 2017
dbSNP: rs1555710171
rs1555710171
2 1.000 18 55228904 inframe deletion GTCTGGGGCTTG/- delins 0.700 1.000 22 2007 2017
dbSNP: rs1555721921
rs1555721921
3 0.925 0.200 18 55234546 splice donor variant A/C;G snv 0.700 1.000 22 2007 2017
dbSNP: rs1555778204
rs1555778204
2 1.000 18 55261525 stop gained C/A snv 0.700 1.000 22 2007 2017
dbSNP: rs1555797248
rs1555797248
1 1.000 18 55275735 frameshift variant C/- del 0.700 1.000 22 2007 2017