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: rs2433718
rs2433718
1 1.000 0.120 2 107986975 intron variant A/G snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4676169
rs4676169
1 1.000 0.120 2 107993689 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs11603305
rs11603305
1 1.000 0.120 11 10976402 regulatory region variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs117648881
rs117648881
1 1.000 0.120 8 112569669 intron variant G/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2015 2015
dbSNP: rs4979356
rs4979356
1 1.000 0.120 9 114228704 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4979357
rs4979357
1 1.000 0.120 9 114228715 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7868992
rs7868992
1 1.000 0.120 9 114228791 intron variant G/A snv 0.63 0.810 1.000 2 2013 2015
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs4271390
rs4271390
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs1805502
rs1805502
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1805476
rs1805476
4 0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs13407215
rs13407215
1 1.000 0.120 2 160688380 intergenic variant C/T snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs10846381
rs10846381
1 1.000 0.120 12 16599165 non coding transcript exon variant A/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs4047771
rs4047771
1 1.000 0.120 4 177549744 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2000 2000
dbSNP: rs2228079
rs2228079
4 0.882 0.160 1 203129147 synonymous variant T/G snv 0.31 0.26 0.010 1.000 1 2015 2015
dbSNP: rs1805404
rs1805404
3 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs191044310
rs191044310
1 1.000 0.120 10 23416522 intergenic variant T/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2015