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: rs121908120
rs121908120
WNT10A
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 0
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs587781245
rs587781245
SASH1
3 0.882 0.120 6 148533885 missense variant G/A snv 6.8E-05 7.0E-05 0.700 0
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2005 2005
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: rs6152
rs6152
AR
9 0.763 0.240 X 67545785 synonymous variant G/A snv 0.15 0.28 0.010 1.000 1 2007 2007
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: rs199473704
rs199473704
TRPV3
5 0.882 0.080 17 3524224 missense variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 1.000 1 2010 2010
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: rs1057517491
rs1057517491
GJB2
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2011 2011
dbSNP: rs267607477
rs267607477
KRT74
2 0.925 0.080 12 52567115 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs72561723
rs72561723
GJB2
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2013
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
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: 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: rs3138869
rs3138869
AR
2 0.925 0.080 X 67546514 frameshift variant -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG delins 0.010 1.000 1 2014 2014
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: rs6457452
rs6457452
HSPA1B
4 0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05 0.010 1.000 1 2014 2014
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: rs761051181
rs761051181
DSP
1 1.000 0.080 6 7569259 missense variant C/T snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs879253799
rs879253799
DCAF17
5 0.882 0.320 2 171443559 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.710 1.000 2 2007 2017