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: rs587784464
rs587784464
1 1.000 0.200 18 55350904 stop gained G/A snv 0.700 0
dbSNP: rs587784465
rs587784465
1 1.000 0.200 18 55279550 splice donor variant C/A;T snv 0.700 0
dbSNP: rs587784466
rs587784466
1 1.000 0.200 18 55275753 splice acceptor variant C/G snv 0.700 0
dbSNP: rs587784469
rs587784469
2 1.000 0.200 18 55261466 splice region variant C/T snv 0.700 0
dbSNP: rs587784470
rs587784470
1 1.000 0.200 18 55260029 splice acceptor variant T/C snv 0.700 0
dbSNP: rs797046033
rs797046033
1 1.000 0.200 18 55234623 stop gained G/A snv 0.700 0
dbSNP: rs797046034
rs797046034
1 1.000 0.200 18 55228855 missense variant T/G snv 0.700 0
dbSNP: rs863224934
rs863224934
1 1.000 0.200 18 55279658 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057519592
rs1057519592
1 1.000 0.200 18 55257324 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs1057518848
rs1057518848
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1135401807
rs1135401807
1 1.000 0.200 18 55228283 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555710069
rs1555710069
1 1.000 0.200 18 55228892 frameshift variant G/- delins 0.700 0
dbSNP: rs1555710127
rs1555710127
1 1.000 0.200 18 55228898 inframe deletion AGGAGCTTGGTC/- delins 0.700 0
dbSNP: rs1555718354
rs1555718354
1 1.000 0.200 18 55232645 stop gained -/GACTACTG delins 0.700 0
dbSNP: rs1555764839
rs1555764839
1 1.000 0.200 18 55254678 frameshift variant A/- delins 0.700 0
dbSNP: rs1555775233
rs1555775233
1 1.000 0.200 18 55259950 frameshift variant -/GA delins 0.700 0
dbSNP: rs1555789019
rs1555789019
5 0.882 0.320 18 55269829 splice donor variant ACCCAT/GGGAC delins 0.700 0
dbSNP: rs1568471940
rs1568471940
1 1.000 0.200 18 55254555 frameshift variant C/- delins 0.700 0
dbSNP: rs1568509890
rs1568509890
1 1.000 0.200 18 55259984 frameshift variant G/- delins 0.700 0
dbSNP: rs1568523662
rs1568523662
1 1.000 0.200 18 55261515 frameshift variant CCCGC/- delins 0.700 0
dbSNP: rs1568620706
rs1568620706
1 1.000 0.200 18 55275665 frameshift variant AT/- delins 0.700 0
dbSNP: rs1568620774
rs1568620774
1 1.000 0.200 18 55275667 frameshift variant -/T delins 0.700 0
dbSNP: rs1568622225
rs1568622225
2 0.925 0.280 18 55275712 frameshift variant C/- delins 0.700 0
dbSNP: rs1569138023
rs1569138023
1 1.000 0.200 18 55350904 frameshift variant G/- delins 0.700 0
dbSNP: rs398123561
rs398123561
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0