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: rs1060503383
rs1060503383
14 0.923 0.179 6 33441318 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.090 1.000 9 2005 2016
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.090 1.000 9 2005 2016
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.080 0.875 8 2008 2014
dbSNP: rs1006737
rs1006737
31 0.679 0.107 12 2236129 intron variant G/A snp 0.37 0.030 1.000 3 2014 2016
dbSNP: rs25531
rs25531
39 0.626 0.321 17 30237328 intergenic variant T/C snp 0.030 0.333 3 2008 2011
dbSNP: rs6318
rs6318
22 0.707 0.250 X 114731326 missense variant C/G,T snp 0.14 0.19 0.020 0.500 2 1999 2016
dbSNP: rs63750264
rs63750264
APP
19 0.707 0.321 21 25891784 missense variant C/A,G,T snp 0.020 1.000 2 2000 2010
dbSNP: rs1018381
rs1018381
5 0.923 0.036 6 15656839 intron variant G/A snp 0.14 0.010 1.000 1 2012 2012
dbSNP: rs1059004
rs1059004
4 0.923 0.036 21 33028155 3 prime UTR variant C/A snp 0.41 0.010 1.000 1 2014 2014
dbSNP: rs10994336
rs10994336
11 0.769 0.143 10 60420054 intron variant C/T snp 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1133503
rs1133503
5 0.923 0.036 6 95606712 3 prime UTR variant C/G,T snp 0.59 0.010 1.000 1 2015 2015
dbSNP: rs120074125
rs120074125
6 0.923 0.143 11 6393301 missense variant T/G snp 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121909671
rs121909671
FUS
6 0.846 0.107 16 31191419 missense variant G/A snp 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121964849
rs121964849
2 1.000 0.107 12 6869741 missense variant A/G snp 0.010 1.000 1 2015 2015
dbSNP: rs12936511
rs12936511
4 0.923 0.071 17 45807036 synonymous variant C/T snp 3.1E-02 3.1E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs13438494
rs13438494
6 0.923 0.071 7 82759398 intron variant T/G snp 0.60 0.010 1.000 1 2016 2016
dbSNP: rs1360780
rs1360780
16 0.769 0.107 6 35639794 intron variant T/A,C snp 0.69 0.010 1.000 1 2015 2015
dbSNP: rs137853208
rs137853208
DDC
3 0.923 0.071 7 50504025 missense variant G/A snp 0.010 1.000 1 2018 2018
dbSNP: rs1799920
rs1799920
2 5 63961656 missense variant C/G,T snp 3.2E-04 5.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921
2 5 63961638 missense variant T/C snp 9.4E-03 7.8E-03 0.010 1.000 1 2008 2008
dbSNP: rs1800044
rs1800044
6 0.846 0.143 5 63961061 missense variant C/A snp 3.7E-03 4.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs1800497
rs1800497
36 0.662 0.250 11 113400106 missense variant G/A snp 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs200754713
rs200754713
2 1 226888954 missense variant A/G snp 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2400707
rs2400707
3 1.000 0.036 5 148825489 5 prime UTR variant A/G,T snp 0.59 0.010 < 0.001 1 2014 2014