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: rs2413450
rs2413450
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 3 2009 2017
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: rs855788
rs855788
4 22 37078039 intron variant G/A snv 0.51 0.800 1.000 2 2012 2019
dbSNP: rs1421312
rs1421312
4 22 37091770 intron variant A/G snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906
3 22 37097138 intron variant G/A snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs2235324
rs2235324
3 22 37089684 missense variant T/C snv 0.38 0.40 0.700 1.000 1 2012 2012
dbSNP: rs228904
rs228904
2 22 37098774 intron variant A/G snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs5756504
rs5756504
5 22 37071230 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs5756506
rs5756506
4 22 37071352 intron variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs5756520
rs5756520
4 22 37112467 upstream gene variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs6000550
rs6000550
4 22 37067410 intron variant C/G;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs9610646
rs9610646
1 22 37088334 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs9619658
rs9619658
3 22 37100807 intron variant C/G;T snv 0.700 1.000 1 2016 2016