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: rs796052839
rs796052839
3 0.882 0.200 X 100407579 missense variant T/C;G snv 0.800 1.000 17 1990 2017
dbSNP: rs587784299
rs587784299
1 1.000 0.200 X 100407903 missense variant T/A;C snv 0.800 1.000 15 2008 2017
dbSNP: rs201989363
rs201989363
1 1.000 0.200 X 100406898 missense variant G/A;C;T snv 4.4E-05 0.800 1.000 12 2008 2016
dbSNP: rs267606933
rs267606933
1 1.000 0.200 X 100406927 missense variant G/A;C snv 0.800 1.000 12 2008 2016
dbSNP: rs132630323
rs132630323
1 1.000 0.200 X 100407276 missense variant A/T snv 0.800 0
dbSNP: rs1555985448
rs1555985448
1 1.000 0.200 X 100407813 missense variant G/T snv 0.700 1.000 12 2008 2016
dbSNP: rs1555985475
rs1555985475
1 1.000 0.200 X 100407897 missense variant T/C snv 0.700 1.000 12 2008 2016
dbSNP: rs753757730
rs753757730
1 1.000 0.200 X 100408027 missense variant C/G;T snv 5.6E-06; 5.6E-06 0.700 1.000 12 2008 2016
dbSNP: rs758946412
rs758946412
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 1.000 6 2008 2017
dbSNP: rs1131691646
rs1131691646
1 1.000 0.200 X 100407077 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2012
dbSNP: rs1555984453
rs1555984453
1 1.000 0.200 X 100402687 frameshift variant T/- del 0.700 1.000 1 2011 2011
dbSNP: rs1569315231
rs1569315231
1 1.000 0.200 X 100407680 stop gained G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs769967221
rs769967221
1 1.000 0.200 X 100407415 stop gained G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs779136255
rs779136255
1 1.000 0.200 X 100403522 coding sequence variant -/CTCTTTCCCCTTAGGCTCACTTTCTCC delins 5.8E-06 1.9E-05 0.700 1.000 1 2011 2011
dbSNP: rs1057521256
rs1057521256
1 1.000 0.200 X 100406783 stop gained G/A;C snv 0.700 0
dbSNP: rs1060502175
rs1060502175
1 1.000 0.200 X 100402799 frameshift variant T/- delins 0.700 0
dbSNP: rs1060502176
rs1060502176
1 1.000 0.200 X 100407891 missense variant G/A;C snv 0.700 0
dbSNP: rs132630324
rs132630324
1 1.000 0.200 X 100408345 stop gained G/A snv 0.700 0
dbSNP: rs132630325
rs132630325
1 1.000 0.200 X 100406586 stop gained G/C snv 0.700 0
dbSNP: rs132630326
rs132630326
1 1.000 0.200 X 100408456 stop gained C/A;T snv 0.700 0
dbSNP: rs1555985105
rs1555985105
1 1.000 0.200 X 100407043 stop gained G/A snv 0.700 0
dbSNP: rs1555985163
rs1555985163
1 1.000 0.200 X 100407150 frameshift variant CCAGGTC/- delins 0.700 0
dbSNP: rs1555985416
rs1555985416
1 1.000 0.200 X 100407718 frameshift variant -/GGTCG delins 0.700 0
dbSNP: rs1555985543
rs1555985543
1 1.000 0.200 X 100407979 frameshift variant G/- delins 0.700 0
dbSNP: rs1555985639
rs1555985639
1 1.000 0.200 X 100408108 stop gained GC/AT mnv 0.700 0