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: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2011 2011
dbSNP: rs371194629
rs371194629
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2008 2017
dbSNP: rs70991108
rs70991108
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs1414323823
rs1414323823
4 0.851 0.160 15 74722772 frameshift variant -/TCTCGGT ins 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs729302
rs729302
6 0.827 0.160 7 128928906 intergenic variant A/C snv 0.28 0.820 1.000 6 2008 2013
dbSNP: rs6568431
rs6568431
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.800 1.000 5 2008 2017
dbSNP: rs10489265
rs10489265
5 0.827 0.200 1 173266926 regulatory region variant A/C snv 0.21 0.720 1.000 3 2012 2013
dbSNP: rs1734787
rs1734787
1 1.000 0.080 X 154059995 non coding transcript exon variant A/C snv 0.17 0.710 0.500 2 2015 2015
dbSNP: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.700 1.000 1 2013 2013
dbSNP: rs13280095
rs13280095
1 1.000 0.080 8 128166844 intron variant A/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1341239
rs1341239
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1419183
rs1419183
1 1.000 0.080 6 28275017 intron variant A/C snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs1517352
rs1517352
5 0.851 0.160 2 191066738 intron variant A/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs180977001
rs180977001
PXK
1 1.000 0.080 3 58332737 upstream gene variant A/C snv 4.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs1891385
rs1891385
2 0.925 0.120 9 6219845 intron variant A/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs2523987
rs2523987
5 0.827 0.280 6 30112216 intron variant A/C snv 9.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs3136744
rs3136744
1 1.000 0.080 8 42349829 intron variant A/C snv 9.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs3181032
rs3181032
2 0.925 0.160 12 68162395 intron variant A/C snv 5.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs381575
rs381575
1 1.000 0.080 5 53617061 intron variant A/C snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs437179
rs437179
3 0.882 0.160 6 31961237 missense variant A/C snv 0.76 0.78 0.700 1.000 1 2014 2014
dbSNP: rs4717901
rs4717901
1 1.000 0.080 7 74602653 upstream gene variant A/C snv 3.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs5017567
rs5017567
1 1.000 0.080 1 161671506 missense variant A/C snv 6.4E-05 1.3E-04 0.010 1.000 1 2007 2007
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs630379
rs630379
3 0.882 0.200 6 31954477 intron variant A/C snv 0.77 0.79 0.700 1.000 1 2014 2014