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: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2011 2011
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs116548533
rs116548533
CYP24A1
4 0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1380207149
rs1380207149
VDR
1 1.000 0.080 12 47855743 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1382048442
rs1382048442
ABCC2
2 0.925 0.160 10 99797141 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs141480813
rs141480813
AIRE
4 0.882 0.080 21 44289752 missense variant A/T snv 2.8E-05 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800520
rs1800520
AIRE
5 0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1878327
rs1878327
MFGE8
2 0.925 0.120 15 88907315 synonymous variant C/T snv 0.61 0.67 0.010 1.000 1 2019 2019
dbSNP: rs191806896
rs191806896
DSG4 ; DSG1-AS1
1 1.000 0.080 18 31403494 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs199473704
rs199473704
TRPV3
5 0.882 0.080 17 3524224 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs201249971
rs201249971
LIPH
8 0.776 0.120 3 185519292 missense variant A/T snv 1.6E-04 4.9E-05 0.010 1.000 1 2017 2017
dbSNP: rs201868115
rs201868115
LIPH
3 0.882 0.080 3 185519286 missense variant G/T snv 9.5E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2019 2019
dbSNP: rs267607477
rs267607477
KRT74
2 0.925 0.080 12 52567115 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs3138869
rs3138869
AR
2 0.925 0.080 X 67546514 frameshift variant -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 1.000 1 2014 2014
dbSNP: rs3743388
rs3743388
MFGE8
2 0.925 0.120 15 88905906 splice region variant C/A;G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs377423996
rs377423996
VDR
4 0.851 0.280 12 47845002 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs378299
rs378299
ICOSLG
3 0.882 0.160 21 44241460 upstream gene variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs3820706
rs3820706
CACNB4
1 1.000 0.080 2 152100897 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013