Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2476601
AP4B1-AS1 ; PTPN22
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 121
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs1800440
CYP1B1
0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 29
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 25
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 16
rs12916300
HERC2
0.742 0.080 15 28165345 intron variant C/T snv 0.50 13
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs6059655
RALY
0.790 0.080 20 34077942 intron variant A/G snv 0.95 10
rs7907606 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 8
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs10425559 0.807 0.040 19 4837475 upstream gene variant A/G snv 0.66 7
rs10810657 0.827 0.080 9 16884588 regulatory region variant T/A;G snv 7
rs231726 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 7
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs2294214
CASC15
0.882 0.040 6 22056694 splice region variant A/C;T snv 6
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6
rs11170164
KRT5
0.827 0.120 12 52519884 missense variant C/T snv 5.7E-02 5.3E-02 6
rs16917546
LOC105378327 ; ZNF365
0.851 0.040 10 62637778 intron variant T/C snv 0.29 6
rs7538876
PADI6
0.807 0.120 1 17395867 intron variant G/A snv 0.37 6
rs35407
SLC45A2
0.807 0.080 5 33946466 3 prime UTR variant A/C;G snv 6
rs801114 0.827 0.120 1 228862088 downstream gene variant T/G snv 0.48 5
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5