Source: ALL
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: rs204999
rs204999 		13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.810 1.000 1 2012 2012
dbSNP: rs2858870
rs2858870
HLA-DRB1
4 0.851 0.280 6 32604474 intergenic variant T/A;C snv 0.710 1.000 1 2012 2012
dbSNP: rs6903608
rs6903608
HLA-DRB9
11 0.742 0.400 6 32460508 intron variant C/G;T snv 0.710 1.000 1 2012 2012
dbSNP: rs9268528
rs9268528 		4 0.851 0.280 6 32415331 regulatory region variant A/G snv 0.34 0.710 1.000 1 2012 2012
dbSNP: rs9268542
rs9268542 		4 0.851 0.280 6 32416944 intergenic variant A/G snv 0.35 0.710 1.000 1 2012 2012
dbSNP: rs9269081
rs9269081
HLA-DRB9
4 0.851 0.280 6 32473323 intron variant A/C snv 0.69 0.710 1.000 1 2017 2017
dbSNP: rs112998813
rs112998813
UPF3A
1 1.000 0.120 13 114294254 intron variant T/C snv 6.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs34972832
rs34972832
CLEC16A
2 0.925 0.120 16 11105081 intron variant G/A;T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs3781093
rs3781093
GATA3
3 0.882 0.120 10 8059964 intron variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs4459895
rs4459895
LPP
5 0.827 0.160 3 188236626 intron variant A/C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs6928977
rs6928977
AHI1
2 0.925 0.120 6 135305210 intron variant T/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs121908362
rs121908362
SLC26A4
5 0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05 0.020 1.000 2 2013 2017
dbSNP: rs111033243
rs111033243
SLC26A4
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs121908354
rs121908354
CDH23
4 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1271250198
rs1271250198
KCNQ4
2 0.925 0.240 1 40784233 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1311502646
rs1311502646
NUP214
1 1.000 0.120 9 131178386 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13196329
rs13196329
TSBP1 ; TSBP1-AS1
2 0.925 0.120 6 32357594 intron variant A/C snv 2.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs371024165
rs371024165
GJB2
9 0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs483352866
rs483352866
TBC1D24
3 0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs72474224
rs72474224
GJB2
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs768368875
rs768368875
TLR3
3 0.882 0.120 4 186076796 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs771494831
rs771494831
IFNL3
3 0.882 0.120 19 39244791 synonymous variant G/A snv 8.1E-06 0.010 1.000 1 2017 2017