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: rs137853058
rs137853058
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.020 1.000 2 2002 2002
dbSNP: rs1411478
rs1411478
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs10675541
rs10675541
1 1.000 0.120 3 39468795 intron variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs10878245
rs10878245
1 1.000 0.120 12 40237989 missense variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs114573015
rs114573015
1 1.000 0.120 1 85137368 downstream gene variant A/G snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs12125383
rs12125383
1 1.000 0.120 1 221995092 regulatory region variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1425322249
rs1425322249
1 1.000 0.120 5 96979369 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs147124286
rs147124286
SP1
1 1.000 0.120 12 53394218 intron variant -/A delins 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1801582
rs1801582
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs2045091
rs2045091
1 1.000 0.120 8 130063613 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs2142991
rs2142991
1 1.000 0.120 10 42845657 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs35740963
rs35740963
1 1.000 0.120 6 45531876 intron variant -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs368453549
rs368453549
1 1.000 0.120 19 15272936 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs564309
rs564309
1 1.000 0.120 1 228397861 intron variant C/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs566433112
rs566433112
1 1.000 0.120 2 74378112 missense variant T/C snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs57113693
rs57113693
1 1.000 0.120 1 180983158 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs621042
rs621042
1 1.000 0.120 12 18636073 intron variant C/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs63751391
rs63751391
3 0.882 0.120 17 46010395 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs6547705
rs6547705
1 1.000 0.120 2 86817193 intron variant G/A snv 0.83 0.800 1.000 1 2011 2011
dbSNP: rs6852535
rs6852535
1 1.000 0.120 4 122557561 intergenic variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs746389377
rs746389377
1 1.000 0.120 10 95384258 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7571971
rs7571971
2 1.000 0.120 2 88595833 non coding transcript exon variant T/C snv 0.70 0.77 0.800 1.000 1 2011 2011
dbSNP: rs76970862
rs76970862
1 1.000 0.120 17 45709317 intron variant A/G snv 4.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs7966334
rs7966334
1 1.000 0.120 12 21314281 intron variant C/G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs2471738
rs2471738
MAPT ; STH
4 0.882 0.160 17 45998697 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017