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: rs1060503428
rs1060503428
10 0.821 0.107 16 89546662 inframe deletion AGGCGGGAGA/A in-del 0.700 1 2015 2015
dbSNP: rs63751011
rs63751011
4 0.923 0.107 17 46010418 intron variant C/T snp 0.700 1 2015 2015
dbSNP: rs768823392
rs768823392
10 0.821 0.107 16 89546657 splice acceptor variant AGGAGAGGCG/A in-del 4.0E-06; 2.6E-04 4.1E-04 0.700 1 2015 2015
dbSNP: rs80356702
rs80356702
10 0.846 0.107 7 143330868 missense variant G/A snp 4.0E-06 0.700 1 2015 2015
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.030 1.000 3 2008 2014
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.030 1.000 3 2008 2014
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2007 2014
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2014 2014
dbSNP: rs1411832
rs1411832
2 1.000 0.036 10 106126497 intergenic variant C/T snp 9.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs17125721
rs17125721
9 0.801 0.107 14 73206470 missense variant A/G snp 1.5E-02 1.7E-02 0.010 1.000 1 2002 2002
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs281865071
rs281865071
3 0.923 0.036 1 154571759 missense variant C/G,T snp 0.010 1.000 1 2006 2006
dbSNP: rs572842823
rs572842823
APP
9 0.821 0.107 21 25897626 missense variant T/A snp 0.010 1.000 1 1998 1998
dbSNP: rs61748411
rs61748411
6 0.821 0.107 X 154031356 missense variant T/C snp 0.010 1.000 1 2012 2012
dbSNP: rs6277
rs6277
23 0.724 0.393 11 113412737 synonymous variant G/A snp 0.41 0.38 0.010 1.000 1 2007 2007
dbSNP: rs63750264
rs63750264
APP
19 0.707 0.321 21 25891784 missense variant C/A,G,T snp 0.010 1.000 1 2004 2004
dbSNP: rs63750424
rs63750424
25 0.692 0.214 17 46024061 missense variant C/T snp 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs63750852
rs63750852
3 0.923 0.107 14 73170998 missense variant G/A,T snp 6.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs63751273
rs63751273
26 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2012 2012
dbSNP: rs763868966
rs763868966
3 1.000 0.071 17 44911429 stop gained C/A,G,T snp 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs771827293
rs771827293
3 0.923 0.107 6 7248606 missense variant G/A snp 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs8074995
rs8074995
4 0.923 0.036 17 66796013 intron variant G/A snp 0.14 0.010 1.000 1 2011 2011