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: rs751945904
rs751945904
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.020 1.000 2 2011 2019
dbSNP: rs144093574
rs144093574
1 1.000 0.040 X 5903545 missense variant T/C snv 3.0E-04 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs1882260
rs1882260
2 1.000 0.040 X 5890820 3 prime UTR variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs2290488
rs2290488
1 1.000 0.040 X 6227814 5 prime UTR variant C/G;T snv 0.30 0.010 < 0.001 1 2008 2008
dbSNP: rs3747333
rs3747333
3 0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs3747334
rs3747334
3 0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03 0.010 1.000 1 2014 2014
dbSNP: rs3810686
rs3810686
1 1.000 0.040 X 5892533 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3810687
rs3810687
1 1.000 0.040 X 5892643 3 prime UTR variant G/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs3810688
rs3810688
1 1.000 0.040 X 5892715 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs5916269
rs5916269
1 1.000 0.040 X 5892258 3 prime UTR variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs6638575
rs6638575
1 1.000 0.040 X 5894600 intron variant A/G snv 0.010 1.000 1 2016 2016