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: rs4378559
rs4378559
1 1.000 0.040 14 100835958 non coding transcript exon variant C/G;T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs900414
rs900414
1 1.000 0.040 15 101314378 intron variant A/G snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs3917318
rs3917318
1 1.000 0.040 2 102176300 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2014 2018
dbSNP: rs2252070
rs2252070
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs2622873
rs2622873
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs9783397
rs9783397
1 1.000 0.040 11 109152533 intergenic variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs419598
rs419598
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4979341
rs4979341
2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1078301
rs1078301
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10817595
rs10817595
2 0.925 0.200 9 114361470 intron variant C/A;T snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs3748176
rs3748176
1 1.000 0.040 9 114362451 missense variant G/A snv 0.49 0.41 0.010 1.000 1 2018 2018
dbSNP: rs7682531
rs7682531
1 1.000 0.040 4 115123255 intergenic variant C/A snv 0.54 0.700 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: rs17050272
rs17050272
9 0.882 0.120 2 120548864 upstream gene variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1060105
rs1060105
3 0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16 0.700 1.000 1 2018 2018
dbSNP: rs56116847
rs56116847
1 1.000 0.040 12 123350686 intron variant G/A snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1044122
rs1044122
2 0.925 0.040 10 126036209 synonymous variant A/G snv 0.27 0.26 0.030 0.667 3 2014 2017
dbSNP: rs1278279
rs1278279
2 0.925 0.040 10 126064909 missense variant G/A;C snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs1871054
rs1871054
3 0.925 0.040 10 126093840 intron variant C/A;T snv 0.020 0.500 2 2017 2017
dbSNP: rs3740199
rs3740199
3 0.882 0.120 10 126330456 missense variant C/A;G snv 2.1E-03; 0.56 0.050 0.600 5 2012 2017
dbSNP: rs76983122
rs76983122
1 1.000 0.040 8 143903707 downstream gene variant C/T snv 3.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs1800802
rs1800802
3 0.925 0.040 12 14885985 intron variant A/G snv 0.15 0.010 1.000 1 2019 2019