Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7335046 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 7
rs401618
HLA-A
0.827 0.120 6 29982433 downstream gene variant A/G;T snv 5
rs6475552
LOC107987026
1.000 0.040 9 21701675 downstream gene variant G/A;T snv 1
rs6673928 1.000 0.040 1 206763900 downstream gene variant G/T snv 0.20 1
rs7848524
LOC107987026
1.000 0.040 9 21701433 downstream gene variant T/A;C;G snv 1
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs4950928
CHI3L1
0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 33
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs4785752 1.000 0.040 16 89968733 upstream gene variant A/G snv 0.42 2
rs2127675 1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36 1
rs7033503 1.000 0.040 9 21799599 upstream gene variant T/C;G snv 1
rs721970 1.000 0.040 20 33315727 upstream gene variant A/G snv 0.96 1
rs121913685
KIT
0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 4
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del 1
rs121913416
CTNNB1
1.000 0.040 3 41224575 inframe deletion TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- delins 1
rs121913417
CTNNB1
1.000 0.040 3 41224583 inframe deletion GGCAGCAACAGTCTTACCTGGACT/- delins 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv 26
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv 9
rs5759167 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 4
rs11263498 1.000 0.040 11 69567999 TF binding site variant T/C snv 0.51 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33