Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs2303425
MSH2
0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 8
rs3769823
CASP8
0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 6
rs13014235
FLACC1
0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 5
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 13
rs893729101
CLPTM1L
1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 38
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs104894040
SHH
0.882 0.160 7 155806509 missense variant A/C;G snv 4
rs104894049
SHH
0.925 0.120 7 155806527 missense variant T/A snv 3
rs41303402
SMO
1.000 0.040 7 129203437 missense variant G/A;T snv 1.0E-04; 5.7E-06 2
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs357564
PTCH1
0.827 0.160 9 95447312 missense variant G/A;C;T snv 0.39; 1.2E-05; 4.1E-06 6
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv 3