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: rs855791
rs855791
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 7 2010 2018
dbSNP: rs9349205
rs9349205
7 6 41957421 intron variant G/A;C snv 0.800 1.000 3 2009 2018
dbSNP: rs1134634
rs1134634
2 4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06 0.700 1.000 2 2016 2019
dbSNP: rs1211375
rs1211375
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.800 1.000 2 2013 2017
dbSNP: rs12127588
rs12127588
2 1 198626376 intergenic variant G/A;C;T snv 0.700 1.000 2 2010 2017
dbSNP: rs12232375
rs12232375
2 16 88500003 intron variant G/A;C;T snv 0.700 1.000 2 2016 2019
dbSNP: rs12636078
rs12636078
3 3 20064181 intron variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs140522
rs140522
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs1958078
rs1958078
4 14 69888141 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs2283847
rs2283847
MN1
7 22 27785411 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs2572207
rs2572207
3 15 65778355 intron variant C/A;T snv 0.700 1.000 2 2016 2017
dbSNP: rs3218097
rs3218097
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2010 2012
dbSNP: rs4820268
rs4820268
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 2 2009 2012
dbSNP: rs496321
rs496321
3 11 95153468 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs58123204
rs58123204
1 12 53366378 intergenic variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs61823972
rs61823972
4 1 205232197 intron variant A/C;T snv 0.700 1.000 2 2016 2019
dbSNP: rs62160676
rs62160676
5 2 111410354 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs6494537
rs6494537
2 15 65759007 intron variant C/G;T snv 0.800 1.000 2 2010 2012
dbSNP: rs6569992
rs6569992
4 6 135131014 intergenic variant G/A;C;T snv 0.800 1.000 2 2010 2012
dbSNP: rs68149176
rs68149176
2 16 87852884 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs739385
rs739385
4 7 93053295 regulatory region variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs74929147
rs74929147
4 19 18302251 downstream gene variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs8887
rs8887
7 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 0.700 1.000 2 2016 2019
dbSNP: rs9924561
rs9924561
3 16 264781 intron variant G/A;T snv 2.9E-05; 6.5E-03 0.700 1.000 2 2013 2017
dbSNP: rs10148930
rs10148930
EVL
1 14 100134466 intron variant A/G;T snv 0.700 1.000 1 2019 2019