Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
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
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
rs4796793
STAT3
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 16
rs12951053
TP53
0.732 0.160 17 7674089 intron variant A/C snv 0.10 14
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 8
rs2303425
MSH2
0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 8
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs1036980234
PTCH1
0.827 0.160 9 95447156 missense variant G/A snv 6
rs16917546
LOC105378327 ; ZNF365
0.851 0.040 10 62637778 intron variant T/C snv 0.29 6
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
rs142310826 1.000 0.040 4 178481702 intergenic variant T/A snv 1.7E-02 3
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72 3
rs758656848
PTCH1
0.925 0.040 9 95485797 missense variant T/C snv 3
rs2805831
PTCSC2
1.000 0.040 9 97704354 intron variant G/A snv 0.18 2
rs57343616
NABP2 ; SLC39A5
1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 2
rs79824801
PAN2 ; IL23A
1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 2
rs893729101
CLPTM1L
1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05 2
rs912880810
SMO
1.000 0.040 7 129203401 missense variant C/G;T snv 2