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: rs1057518853
rs1057518853
3 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
dbSNP: rs1553553485
rs1553553485
1 1.000 0.080 2 166058626 stop gained G/C snv 0.700 0
dbSNP: rs1555228665
rs1555228665
4 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1559193213
rs1559193213
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs1564365418
rs1564365418
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs201439531
rs201439531
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs34757931
rs34757931
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs606231435
rs606231435
18 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs755604487
rs755604487
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs769234940
rs769234940
11 0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs886039529
rs886039529
2 1.000 0.080 2 166036051 frameshift variant TT/- delins 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs121917748
rs121917748
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs17183814
rs17183814
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2002 2002
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2004 2004
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs121918631
rs121918631
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1398830127
rs1398830127
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1805057
rs1805057
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs211014
rs211014
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.030 1.000 3 2010 2014
dbSNP: rs16850331
rs16850331
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs3943809
rs3943809
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs211037
rs211037
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.050 0.800 5 2012 2018