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: rs4780805
rs4780805
1 16 19393323 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1380703
rs1380703
1 2 57714152 intergenic variant A/G;T snv 0.700 1.000 4 2016 2019
dbSNP: rs62158211
rs62158211
2 2 113348562 intron variant G/T snv 0.18 0.700 1.000 4 2016 2018
dbSNP: rs10973207
rs10973207
1 9 37100528 TF binding site variant G/T snv 0.13 0.700 1.000 2 2019 2019
dbSNP: rs113851554
rs113851554
5 0.882 0.080 2 66523432 intron variant G/A;T snv 0.700 1.000 2 2017 2018
dbSNP: rs11621908
rs11621908
1 14 78029418 regulatory region variant C/T snv 0.11 0.700 1.000 2 2019 2019
dbSNP: rs1263056
rs1263056
1 11 116705699 intergenic variant A/G snv 0.60 0.700 1.000 2 2019 2019
dbSNP: rs12791153
rs12791153
1 11 80974138 intergenic variant A/T snv 6.2E-02 0.700 1.000 2 2019 2019
dbSNP: rs13109404
rs13109404
1 4 101975434 intron variant T/G snv 4.1E-02 0.700 1.000 2 2019 2019
dbSNP: rs1553132
rs1553132
1 11 88564572 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs2192528
rs2192528
1 4 18326273 intergenic variant A/G snv 0.61 0.700 1.000 2 2019 2019
dbSNP: rs365663
rs365663
1 5 1428768 intron variant A/G snv 0.54 0.700 1.000 2 2019 2019
dbSNP: rs4767550
rs4767550
1 12 117513345 intron variant A/G snv 0.33 0.700 1.000 2 2019 2019
dbSNP: rs61980273
rs61980273
1 14 93752603 intron variant G/A snv 2.5E-02 0.700 1.000 2 2017 2017
dbSNP: rs7556815
rs7556815
1 2 113328208 intron variant G/A snv 0.19 0.700 1.000 2 2018 2019
dbSNP: rs7915425
rs7915425
1 10 123256985 intergenic variant T/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs915416
rs915416
1 1 34266383 TF binding site variant C/G;T snv 0.66 0.700 1.000 2 2019 2019
dbSNP: rs10421649
rs10421649
1 19 9831586 upstream gene variant T/A snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10483350
rs10483350
1 14 29346949 intron variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs1057703
rs1057703
JHY
1 11 122959543 3 prime UTR variant T/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs10761674
rs10761674
1 10 62858580 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10823730
rs10823730
1 10 71387550 intergenic variant T/C snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs10899257
rs10899257
1 11 76704165 non coding transcript exon variant G/A snv 0.15 0.12 0.700 1.000 1 2019 2019
dbSNP: rs10953765
rs10953765
1 7 114651380 intron variant G/A snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs10987006
rs10987006
1 9 125889260 intron variant C/A;G snv 0.700 1.000 1 2018 2018