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: rs2050122
rs2050122
1 1 19662712 upstream gene variant T/C;G snv 0.700 1.000 3 2016 2017
dbSNP: rs4821940
rs4821940
1 22 40263569 intron variant T/C snv 0.45 0.700 1.000 3 2016 2017
dbSNP: rs76681500
rs76681500
2 1 77247749 upstream gene variant G/A snv 0.11 0.700 1.000 3 2016 2017
dbSNP: rs10157197
rs10157197
1 1 150278225 intron variant G/A snv 0.40 0.700 1.000 2 2016 2016
dbSNP: rs1075265
rs1075265
1 2 54127790 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs113851554
rs113851554
5 0.882 0.080 2 66523432 intron variant G/A;T snv 0.700 1.000 2 2017 2018
dbSNP: rs12140153
rs12140153
5 1 62114219 missense variant G/A;T snv 4.0E-06; 5.9E-02 0.700 1.000 2 2016 2017
dbSNP: rs372229746
rs372229746
1 7 102518368 upstream gene variant G/A snv 0.700 1.000 2 2016 2016
dbSNP: rs542675489
rs542675489
1 12 120557086 intron variant AAAAAAAAAA/-;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA delins 0.700 1.000 2 2016 2017
dbSNP: rs694383
rs694383
2 1 182599069 3 prime UTR variant G/C snv 0.96 0.700 1.000 2 2017 2017
dbSNP: rs10070616
rs10070616
1 5 153174146 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs10194961
rs10194961
1 2 105687806 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10493596
rs10493596
1 1 77260556 intergenic variant C/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10788873
rs10788873
1 1 150278123 intron variant T/A;C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs10896109
rs10896109
1 11 66312552 upstream gene variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs11121022
rs11121022
1 1 7776599 non coding transcript exon variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11139851
rs11139851
1 9 82878125 intergenic variant C/G snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs11162296
rs11162296
1 1 77234511 intergenic variant G/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs111706465
rs111706465
1 2 238543741 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs113964240
rs113964240
1 2 197591586 intron variant C/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs1144566
rs1144566
1 1 182600491 missense variant T/A;C;G snv 0.98 0.700 1.000 1 2016 2016
dbSNP: rs11545787
rs11545787
1 17 17494964 3 prime UTR variant G/A snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs11684176
rs11684176
3 2 198090050 intron variant C/T snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs11708779
rs11708779
1 3 55900911 intron variant G/A snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11709706
rs11709706
1 3 77194454 intron variant T/G snv 0.20 0.700 1.000 1 2016 2016