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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2002 2018
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs139016349
rs139016349
1 1.000 0.040 3 138380319 intron variant -/CTT delins 0.21 0.700 1.000 1 2017 2017
dbSNP: rs3045215
rs3045215
3 0.882 0.040 1 234605171 3 prime UTR variant -/GTTACAATA;GTTATAATA delins 0.010 1.000 1 2015 2015
dbSNP: rs3217713
rs3217713
1 1.000 0.040 3 101857185 splice region variant -/TTCTAGAAAGCTTTAATAACCAC;TTTTAGAAAGCTTTAATAACCAC;TTTTTAGAAAGCTTTAATAACCAC delins 0.81 0.010 1.000 1 2019 2019
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.030 1.000 3 2016 2018
dbSNP: rs34091558
rs34091558
2 1.000 0.040 1 201917642 intron variant A/- delins 0.25 0.010 1.000 1 2018 2018
dbSNP: rs528732638
rs528732638
5 0.851 0.120 18 26940224 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs2128739
rs2128739
2 0.925 0.080 11 103802549 intron variant A/C snv 0.68 0.700 1.000 3 2015 2019
dbSNP: rs7678555
rs7678555
1 1.000 0.040 4 119988346 intergenic variant A/C snv 0.23 0.700 1.000 3 2017 2018
dbSNP: rs4932373
rs4932373
FES
2 1.000 0.040 15 90886057 intron variant A/C snv 0.25 0.700 1.000 2 2018 2018
dbSNP: rs11057840
rs11057840
1 1.000 0.040 12 124831509 intron variant A/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs11072811
rs11072811
2 1.000 0.040 15 78839988 intron variant A/C snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs1186757238
rs1186757238
2 1.000 0.040 5 59039089 5 prime UTR variant A/C snv 0.010 1.000 1 2009 2009
dbSNP: rs11913721
rs11913721
1 1.000 0.040 22 21855846 intron variant A/C snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs12115090
rs12115090
3 0.882 0.040 8 75012585 intron variant A/C snv 0.33 0.44 0.010 1.000 1 2018 2018
dbSNP: rs12315434
rs12315434
2 1.000 0.040 12 57387153 intron variant A/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs12440045
rs12440045
6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs13118820
rs13118820
1 1.000 0.040 4 155515365 intron variant A/C snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2007 2007
dbSNP: rs145099029
rs145099029
1 1.000 0.040 6 160871806 downstream gene variant A/C snv 2.6E-03 0.700 1.000 1 2018 2018
dbSNP: rs1476098
rs1476098
1 1.000 0.040 17 61159652 intron variant A/C snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs1780050
rs1780050
1 1.000 0.040 1 77934855 intron variant A/C snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs1807214
rs1807214
1 1.000 0.040 15 89022026 regulatory region variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs2239704
rs2239704
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2011 2011