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: rs547116051
rs547116051
1 1.000 0.040 17 45980520 intron variant -/C ins 0.700 1.000 1 2019 2019
dbSNP: rs532464664
rs532464664
3 0.882 0.040 22 41238083 frameshift variant -/GCCCGCGC delins 4.8E-03 1.2E-02 0.710 1.000 1 2017 2017
dbSNP: rs150365637
rs150365637
1 1.000 0.040 8 9222261 intron variant -/T delins 0.13 0.700 1.000 1 2018 2018
dbSNP: rs3830675
rs3830675
3 1.000 0.040 10 87931195 intron variant -/TCTTA delins 0.010 1.000 1 2019 2019
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2015 2015
dbSNP: rs10654220
rs10654220
2 1.000 0.040 12 123218875 intron variant -/TGT;TGTTGT delins 0.700 1.000 1 2019 2019
dbSNP: rs11409738
rs11409738
1 1.000 0.040 7 96090522 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1034762
rs1034762
1 1.000 0.040 12 47995860 intron variant A/C snv 0.74 0.79 0.700 1.000 1 2012 2012
dbSNP: rs1042667
rs1042667
3 1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 0.010 1.000 1 2019 2019
dbSNP: rs10974438
rs10974438
3 0.925 0.120 9 4291928 intron variant A/C snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs11107957
rs11107957
1 1.000 0.040 12 78038275 intron variant A/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs1194611372
rs1194611372
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1564861
rs1564861
1 1.000 0.040 8 118953670 upstream gene variant A/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs2615977
rs2615977
3 0.925 0.080 1 102986836 intron variant A/C snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs3815148
rs3815148
1 1.000 0.040 7 107297975 intron variant A/C snv 0.20 0.810 1.000 1 2010 2010
dbSNP: rs2820436
rs2820436
4 0.882 0.040 1 219467338 intergenic variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs200818100
rs200818100
1 1.000 0.040 8 89762965 missense variant A/C;G snv 4.7E-04 4.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs4144782
rs4144782
EN1
2 0.925 0.040 2 118844296 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs602128
rs602128
1 1.000 0.040 11 102842734 missense variant A/C;G snv 4.0E-06; 0.57 0.010 1.000 1 2017 2017
dbSNP: rs6773957
rs6773957
2 1.000 0.040 3 186855916 3 prime UTR variant A/C;G snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs226794
rs226794
3 0.882 0.160 21 26930036 missense variant A/G snv 0.83 0.89 0.030 0.667 3 2008 2019
dbSNP: rs11842874
rs11842874
1 1.000 0.040 13 113040195 intron variant A/G snv 0.12 0.810 1.000 2 2011 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.020 1.000 2 2008 2010
dbSNP: rs3771501
rs3771501
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 2 2018 2019