Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 43
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 27
rs121913496
LRRC56 ; HRAS
0.724 0.440 11 533873 missense variant C/A;G;T snv 16
rs7692430
EPHA5
0.790 0.080 4 65354979 intron variant T/C snv 0.16 10
rs12646351
ZNF827
0.790 0.080 4 145819473 intron variant G/A snv 0.19 10
rs17806780
ZNF827
0.790 0.080 4 145811502 intron variant T/C snv 0.18 10
rs104894413
GJB2
0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 9
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 7
rs150840924
LMNA
0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 7
rs104894402
GJB2
0.882 0.200 13 20189359 missense variant G/A;C snv 5
rs750188782
GJB2
0.882 0.200 13 20189391 frameshift variant ACACGTTCTTGCAGCC/- delins 1.2E-05 5
rs9468925
HLA-B
0.851 0.040 6 31291060 intron variant G/A snv 0.44 5
rs199473704
TRPV3
0.882 0.080 17 3524224 missense variant C/A;T snv 5
rs104894404
GJB2
0.882 0.200 13 20189406 missense variant C/G;T snv 4
rs1165937383
GJB2
0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 3
rs59685571
KRT6A
0.925 0.080 12 52492676 missense variant G/T snv 3
rs121917820
PSORS1C1 ; CDSN
0.925 0.040 6 31117017 stop gained G/A snv 3
rs138292988
AP1S3
1.000 2 223777776 missense variant G/A snv 7.6E-03 7.2E-03 2
rs199473705
TRPV3
1.000 17 3518587 missense variant A/C snv 2
rs3738346
GJB4 ; LOC105378642 ; SMIM12
1 34761865 missense variant A/C snv 3.9E-02 7.5E-02 1
rs267607380
KRT10 ; TMEM99
17 40819557 stop gained C/A;T snv 4.0E-06 1