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: rs12646351
rs12646351
ZNF827
10 0.790 0.080 4 145819473 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17806780
rs17806780
ZNF827
10 0.790 0.080 4 145811502 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs7692430
rs7692430
EPHA5
10 0.790 0.080 4 65354979 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs104894403
rs104894403
GJB2
7 0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2000 2000
dbSNP: rs199473704
rs199473704
TRPV3
5 0.882 0.080 17 3524224 missense variant C/A;T snv 0.020 1.000 2 2008 2017
dbSNP: rs104894402
rs104894402
GJB2
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs104894404
rs104894404
GJB2
4 0.882 0.200 13 20189406 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs104894413
rs104894413
GJB2
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs1165937383
rs1165937383
GJB2
3 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121917820
rs121917820
CDSN ; PSORS1C1
3 0.925 0.040 6 31117017 stop gained G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs138292988
rs138292988
AP1S3
2 1.000 2 223777776 missense variant G/A snv 7.6E-03 7.2E-03 0.010 1.000 1 2014 2014
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs199473705
rs199473705
TRPV3
2 1.000 17 3518587 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs267607380
rs267607380
KRT10 ; TMEM99
1 17 40819557 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3738346
rs3738346
SMIM12 ; GJB4 ; LOC105378642
1 1 34761865 missense variant A/C snv 3.9E-02 7.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs59685571
rs59685571
KRT6A
3 0.925 0.080 12 52492676 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs750188782
rs750188782
GJB2
5 0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs9468925
rs9468925
HLA-B
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.010 1.000 1 2011 2011