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: rs121909120
rs121909120
1 1.000 0.200 18 55228988 missense variant G/A;T snv 0.810 1.000 9 2007 2018
dbSNP: rs121909121
rs121909121
1 1.000 0.200 18 55228987 missense variant C/T snv 0.800 1.000 8 2007 2014
dbSNP: rs121909123
rs121909123
2 1.000 0.200 18 55228993 missense variant C/G;T snv 0.800 1.000 8 2007 2014
dbSNP: rs1568303352
rs1568303352
1 1.000 0.200 18 55228885 missense variant G/A snv 0.700 1.000 4 2009 2012
dbSNP: rs878853149
rs878853149
2 0.925 0.240 18 55350388 stop gained G/A snv 0.700 1.000 3 2012 2017
dbSNP: rs1568303086
rs1568303086
5 0.882 0.320 18 55228877 missense variant C/A snv 0.700 1.000 2 2011 2014
dbSNP: rs1057519592
rs1057519592
1 1.000 0.200 18 55257324 frameshift variant -/A delins 0.700 1.000 1 2012 2012
dbSNP: rs1555782724
rs1555782724
1 1.000 0.200 18 55585279 splice donor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1568490874
rs1568490874
1 1.000 0.200 18 55257312 splice region variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs727505396
rs727505396
1 1.000 0.200 18 55234596 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs796053418
rs796053418
1 1.000 0.200 18 55232588 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs797045072
rs797045072
1 1.000 0.200 18 55259948 splice donor variant C/A;T snv 0.700 1.000 1 2016 2016
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