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: rs4047771
rs4047771
1 1.000 0.120 4 177549744 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2504235
rs2504235
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2708146
rs2708146
1 1.000 0.120 2 58728818 intron variant A/G snv 0.47 0.710 1.000 2 2019 2019
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: 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: 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: rs1922786
rs1922786
1 1.000 0.120 2 58636438 intron variant A/G snv 0.29 0.010 1.000 1 2019 2019
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: rs4676169
rs4676169
1 1.000 0.120 2 107993689 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs6591256
rs6591256
1 1.000 0.120 11 67582428 upstream gene variant A/G snv 0.38 0.010 1.000 1 2014 2014
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: 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: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1996 1996
dbSNP: rs621942
rs621942
1 1.000 0.120 11 86072696 upstream gene variant C/A snv 0.26 0.010 1.000 1 2018 2018
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: rs1906252
rs1906252
3 0.925 0.120 6 98102413 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs191284403
rs191284403
1 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs150975336
rs150975336
1 1.000 0.120 19 8995481 intergenic variant C/G snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 < 0.001 1 2017 2017
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: rs4979356
rs4979356
1 1.000 0.120 9 114228704 intron variant C/G;T snv 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
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2015
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004