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: rs1894111
rs1894111
1 11 67271141 intron variant T/C snv 0.95 0.010 1.000 1 2016 2016
dbSNP: rs275646
rs275646
1 3 148745735 downstream gene variant T/C snv 0.95 0.010 < 0.001 1 2018 2018
dbSNP: rs846910
rs846910
6 0.882 0.160 1 209701909 intron variant A/G snv 0.95 0.010 1.000 1 2004 2004
dbSNP: rs4536
rs4536
1 8 142914345 synonymous variant C/T snv 0.90 0.94 0.010 1.000 1 2011 2011
dbSNP: rs6461992
rs6461992
5 1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs4722675
rs4722675
4 7 27204343 intron variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs10033366
rs10033366
1 4 110409934 intron variant T/C snv 0.92 0.700 1.000 1 2018 2018
dbSNP: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.010 < 0.001 1 2009 2009
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.030 1.000 3 2014 2018
dbSNP: rs6453204
rs6453204
2 1.000 0.080 5 76143375 intron variant A/G snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs651821
rs651821
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.010 1.000 1 2020 2020
dbSNP: rs16827043
rs16827043
1 1 146039555 upstream gene variant C/T snv 0.89 0.010 1.000 1 2017 2017
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.030 1.000 3 2009 2018
dbSNP: rs316019
rs316019
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2010 2010
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs2272592
rs2272592
2 1.000 0.080 6 31730575 5 prime UTR variant T/C snv 0.88 0.010 < 0.001 1 2012 2012
dbSNP: rs4425
rs4425
1 22 46903089 intron variant T/C snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs2070008
rs2070008
FGA
1 4 154592124 upstream gene variant C/T snv 0.88 0.010 < 0.001 1 2009 2009
dbSNP: rs7406910
rs7406910
3 17 48610894 missense variant T/C snv 0.88 0.88 0.700 1.000 1 2016 2016
dbSNP: rs2198596
rs2198596
1 8 15143257 intron variant G/C snv 0.87 0.700 1.000 1 2017 2017
dbSNP: rs864265
rs864265
4 0.925 0.080 3 186836503 intergenic variant T/G snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs1656930
rs1656930
3 1.000 0.080 3 186835068 intergenic variant A/G snv 0.86 0.010 1.000 1 2011 2011
dbSNP: rs10033464
rs10033464
8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 < 0.001 1 2012 2012
dbSNP: rs891512
rs891512
4 0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85 0.010 1.000 1 2012 2012
dbSNP: rs2469997
rs2469997
2 8 119341027 intergenic variant G/C snv 0.83 0.700 1.000 1 2011 2011