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: rs8170
rs8170
6 0.801 0.143 19 17278895 synonymous variant G/A snp 0.15 0.19 0.820 1.000 4 2010 2016
dbSNP: rs11782652
rs11782652
2 0.923 0.107 8 81741409 intron variant A/G snp 6.2E-02 0.810 1.000 2 2013 2015
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: rs757210
rs757210
4 0.846 0.143 17 37736525 intron variant C/G,T snp 0.60; 1.8E-02 0.810 1.000 2 2013 2015
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.800 6 2004 2012
dbSNP: rs3814113
rs3814113
4 0.878 0.107 9 16915023 intergenic variant T/C snp 0.41 0.800 4 2009 2015
dbSNP: rs10088218
rs10088218
3 0.878 0.107 8 128531703 intron variant G/A snp 0.12 0.800 3 2010 2015
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 3 2010 2015
dbSNP: rs183211
rs183211
NSF
5 0.878 0.143 17 46710944 intron variant G/A snp 0.28 0.29 0.800 2 2013 2015
dbSNP: rs4691139
rs4691139
3 0.878 0.107 4 164987569 non coding transcript exon variant A/G,T snp 0.51 0.800 2 2013 2017
dbSNP: rs7651446
rs7651446
2 0.923 0.107 3 156689208 intron variant G/T snp 8.3E-02 0.800 2 2013 2015
dbSNP: rs9303542
rs9303542
3 0.878 0.107 17 48334138 intron variant A/G snp 0.32 0.800 2 2013 2015
dbSNP: rs121913286
rs121913286
21 0.679 0.250 3 179218306 missense variant C/A,G snp 0.800 1 2004 2004
dbSNP: rs17631303
rs17631303
5 0.878 0.107 17 45439036 intron variant A/G snp 1.0E-01 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: rs2665390
rs2665390
3 0.878 0.107 3 156679960 intron variant C/T snp 0.91 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: rs11651755
rs11651755
6 0.821 0.143 17 37739849 intron variant T/C snp 0.50 0.710 1.000 2 2013 2017
dbSNP: rs7405776
rs7405776
5 0.846 0.107 17 37733029 intron variant G/A,C snp 0.62 0.710 1.000 2 2013 2017
dbSNP: rs11175194
rs11175194
1 1.000 0.107 12 63871057 intron variant G/A snp 0.16 0.710 1.000 1 2016 2016
dbSNP: rs1192691
rs1192691
1 1.000 0.107 10 36880367 intergenic variant G/T snp 0.89 0.710 1.000 1 2016 2016
dbSNP: rs1413299
rs1413299
1 1.000 0.107 9 98998959 intron variant G/A,T snp 0.48 0.710 1.000 1 2016 2016
dbSNP: rs633862
rs633862
5 0.923 0.143 9 133279871 intergenic variant T/C snp 0.52 0.710 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.700 5 2004 2012
dbSNP: rs10069690
rs10069690
16 0.699 0.321 5 1279675 intron variant C/T snp 0.35 0.700 2 2015 2017