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: rs1057518848
rs1057518848
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1057521070
rs1057521070
3 0.925 0.200 18 55228999 missense variant C/T snv 0.700 0
dbSNP: rs1131691735
rs1131691735
1 1.000 0.200 18 55228850 stop gained G/A snv 0.700 0
dbSNP: rs1135401807
rs1135401807
1 1.000 0.200 18 55228283 frameshift variant AG/- delins 0.700 0
dbSNP: rs121909122
rs121909122
1 1.000 0.200 18 55254694 stop gained G/A snv 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: rs1555710523
rs1555710523
1 1.000 0.200 18 55228966 missense variant G/A snv 0.700 0
dbSNP: rs1555710726
rs1555710726
1 1.000 0.200 18 55229000 stop gained G/A snv 0.700 0
dbSNP: rs1555717982
rs1555717982
1 1.000 0.200 18 55232601 frameshift variant A/- del 0.700 0
dbSNP: rs1555718063
rs1555718063
1 1.000 0.200 18 55232606 stop gained C/A snv 0.700 0
dbSNP: rs1555718354
rs1555718354
1 1.000 0.200 18 55232645 stop gained -/GACTACTG delins 0.700 0
dbSNP: rs1555718426
rs1555718426
1 1.000 0.200 18 55232654 frameshift variant G/- del 0.700 0
dbSNP: rs1555721921
rs1555721921
3 0.925 0.200 18 55234546 splice donor variant A/C;G snv 0.700 0
dbSNP: rs1555722023
rs1555722023
1 1.000 0.200 18 55234565 missense variant G/C snv 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: rs1555796785
rs1555796785
1 1.000 0.200 18 55275649 missense variant G/C snv 0.700 0
dbSNP: rs1568305976
rs1568305976
2 0.925 0.280 18 55229021 missense variant G/A snv 0.700 0
dbSNP: rs1568331766
rs1568331766
1 1.000 0.200 18 55232631 frameshift variant G/- del 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