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: rs12765063
rs12765063
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1541665
rs1541665
2 1.000 0.040 5 170715913 intron variant C/G;T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2014 2014
dbSNP: rs206936
rs206936
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2281997
rs2281997
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2283265
rs2283265
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2284411
rs2284411
4 1.000 0.040 12 13713238 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs2944366
rs2944366
2 1.000 0.040 3 11011556 intron variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs363043
rs363043
3 0.925 0.080 20 10245498 intron variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs402691
rs402691
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs773857
rs773857
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs914655
rs914655
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs9990174
rs9990174
2 1.000 0.040 3 10998753 intron variant G/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs2110267
rs2110267
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs945270
rs945270
3 0.925 0.040 14 55733755 intergenic variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519475
rs1057519475
2 1.000 0.080 6 1610761 stop gained C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs372857241
rs372857241
2 1.000 0.080 6 1610586 stop gained C/G;T snv 1.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs1057518644
rs1057518644
10 0.925 0.120 8 43192413 stop gained C/T snv 0.700 0
dbSNP: rs387906846
rs387906846
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs555145190
rs555145190
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2006 2018