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: rs587776632
rs587776632
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs587776633
rs587776633
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776634
rs587776634
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0
dbSNP: rs587776635
rs587776635
1 1.000 0.120 1 85267919 frameshift variant T/- delins 0.700 0
dbSNP: rs587776636
rs587776636
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0
dbSNP: rs587776637
rs587776637
1 1.000 0.120 1 85267692 inframe deletion TCT/- delins 0.700 0
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs587781386
rs587781386
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764562217
rs764562217
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2008 2008
dbSNP: rs3020314
rs3020314
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs372411058
rs372411058
1 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs10190751
rs10190751
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3789068
rs3789068
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs7755224
rs7755224
1 1.000 0.120 6 32684540 regulatory region variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2855429
rs2855429
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs2857597
rs2857597
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs3115667
rs3115667
3 0.882 0.200 6 31675622 downstream gene variant T/A;C snv 0.74 0.010 1.000 1 2011 2011