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: rs9281492
rs9281492
1 6 31473191 intron variant -/T delins 0.33 0.700 1.000 1 2017 2017
dbSNP: rs5839768
rs5839768
BOK
1 2 241561143 intron variant -/T;TGCT ins 0.53 0.700 1.000 1 2019 2019
dbSNP: rs111470917
rs111470917
1 15 83916786 intron variant -/TAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs34322845
rs34322845
1 12 93790493 intron variant -/TAAC ins 0.700 1.000 1 2017 2017
dbSNP: rs35208145
rs35208145
1 6 80750319 intergenic variant -/TAAC delins 0.11 0.700 1.000 1 2017 2017
dbSNP: rs11270967
rs11270967
1 8 56292882 regulatory region variant -/TGTATTATCTTTTGTTTAAACCTTAGCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs11323064
rs11323064
1 11 69465339 upstream gene variant A/- del 0.21 0.700 1.000 1 2019 2019
dbSNP: rs138647241
rs138647241
1 6 142194305 intron variant A/- del 0.20 0.700 1.000 1 2017 2017
dbSNP: rs34001204
rs34001204
1 2 218314933 intron variant A/- del 0.44 0.700 1.000 1 2017 2017
dbSNP: rs113168705
rs113168705
1 5 177081190 downstream gene variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017
dbSNP: rs11463901
rs11463901
1 5 171753429 intergenic variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017
dbSNP: rs397954080
rs397954080
1 1 214436403 intron variant A/-;AA;AAA delins 0.700 1.000 1 2017 2017
dbSNP: rs398121251
rs398121251
KIZ
1 20 21243309 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs201794926
rs201794926
2 8 144485527 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2017 2017
dbSNP: rs606452
rs606452
4 1.000 0.040 11 75565133 intron variant A/C snv 0.78 0.700 1.000 5 2012 2019
dbSNP: rs10770705
rs10770705
2 12 20704533 intron variant A/C snv 0.70 0.700 1.000 2 2010 2014
dbSNP: rs13210323
rs13210323
2 6 35037307 intron variant A/C snv 0.30 0.700 1.000 2 2013 2017
dbSNP: rs2011962
rs2011962
1 4 81299170 intergenic variant A/C snv 0.40 0.700 1.000 2 2015 2019
dbSNP: rs2289125
rs2289125
2 11 89491285 5 prime UTR variant A/C snv 0.69 0.61 0.700 1.000 2 2019 2019
dbSNP: rs3103267
rs3103267
2 2 232123872 intron variant A/C snv 0.72 0.700 1.000 2 2013 2019
dbSNP: rs67795913
rs67795913
1 19 55141929 missense variant A/C snv 0.12 0.10 0.700 1.000 2 2019 2019
dbSNP: rs7153027
rs7153027
2 14 91960878 intergenic variant A/C snv 0.44 0.700 1.000 2 2008 2015
dbSNP: rs724577
rs724577
3 4 17991787 intron variant A/C snv 0.71 0.700 1.000 2 2011 2019
dbSNP: rs991967
rs991967
2 1 218442109 3 prime UTR variant A/C snv 0.37 0.700 1.000 2 2014 2019
dbSNP: rs10152591
rs10152591
2 15 69755818 intron variant A/C snv 9.8E-02 0.700 1.000 1 2010 2010