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: rs3814113
rs3814113
4 0.878 0.107 9 16915023 intergenic variant T/C snp 0.41 0.810 1.000 4 2009 2013
dbSNP: rs10088218
rs10088218
3 0.878 0.107 8 128531703 intron variant G/A snp 0.12 0.810 1.000 3 2010 2013
dbSNP: rs1243180
rs1243180
5 0.821 0.143 10 21626690 intron variant T/A snp 0.22 0.810 1.000 2 2013 2015
dbSNP: rs2665390
rs2665390
3 0.878 0.107 3 156679960 intron variant C/T snp 0.91 0.810 1.000 2 2010 2012
dbSNP: rs4691139
rs4691139
3 0.878 0.107 4 164987569 non coding transcript exon variant A/G,T snp 0.51 0.810 1.000 2 2013 2017
dbSNP: rs9303542
rs9303542
3 0.878 0.107 17 48334138 intron variant A/G snp 0.32 0.810 1.000 2 2012 2013
dbSNP: rs17631303
rs17631303
5 0.878 0.107 17 45439036 intron variant A/G snp 1.0E-01 0.810 1.000 1 2013 2013
dbSNP: rs2072590
rs2072590
2 0.923 0.107 2 176177905 non coding transcript exon variant A/C,T snp 0.75; 6.4E-05 0.800 2 2010 2013
dbSNP: rs11782652
rs11782652
2 0.923 0.107 8 81741409 intron variant A/G snp 6.2E-02 0.800 1 2013 2013
dbSNP: rs183211
rs183211
NSF
5 0.878 0.143 17 46710944 intron variant G/A snp 0.28 0.29 0.800 1 2013 2013
dbSNP: rs2363956
rs2363956
5 0.821 0.143 19 17283315 missense variant T/G snp 0.48 0.51 0.800 1 2010 2010
dbSNP: rs34289250
rs34289250
2 0.923 0.107 17 61803285 intron variant T/C snp 7.2E-03 0.800 1 2011 2011
dbSNP: rs757210
rs757210
4 0.846 0.143 17 37736525 intron variant C/G,T snp 0.60; 1.8E-02 0.800 1 2013 2013
dbSNP: rs7651446
rs7651446
2 0.923 0.107 3 156689208 intron variant G/T snp 8.3E-02 0.800 1 2013 2013
dbSNP: rs8170
rs8170
6 0.801 0.143 19 17278895 synonymous variant G/A snp 0.15 0.19 0.800 1 2013 2013
dbSNP: rs11571833
rs11571833
23 0.652 0.250 13 32398489 stop gained A/T snp 6.6E-03 5.4E-03 0.720 1.000 3 2016 2017
dbSNP: rs7705526
rs7705526
14 0.784 0.214 5 1285859 intron variant C/A,T snp 0.29 0.710 1.000 2 2013 2017
dbSNP: rs4808075
rs4808075
10 0.744 0.250 19 17279482 intron variant T/C snp 0.26 0.700 2 2017 2017
dbSNP: rs10069690
rs10069690
16 0.699 0.321 5 1279675 intron variant C/T snp 0.35 0.700 1 2017 2017
dbSNP: rs1011970
rs1011970
13 0.715 0.286 9 22062135 intron variant G/T snp 0.22 0.700 1 2017 2017
dbSNP: rs1057941
rs1057941
10 0.744 0.250 1 155216951 non coding transcript exon variant G/A,T snp 0.46 0.38 0.700 1 2017 2017
dbSNP: rs10674174
rs10674174
2 0.923 0.107 13 61317942 T/TG in-del 0.700 1 2016 2016
dbSNP: rs10756819
rs10756819
3 0.923 0.107 9 16858086 intron variant G/A,C,T snp 0.50 0.700 1 2009 2009
dbSNP: rs10810666
rs10810666
2 0.923 0.107 9 16911668 intergenic variant C/T snp 0.15 0.700 1 2009 2009
dbSNP: rs10899426
rs10899426
2 0.923 0.107 11 78008566 intergenic variant T/C snp 3.2E-02 0.700 1 2017 2017