Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs867384693
HDAC3
0.851 0.120 5 141625349 missense variant C/A;T snv 6
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs5854292
EGFEM1P
0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 5
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs2244444
ARHGEF10L
0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 3
rs12732894
ARHGEF10L
0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 3
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42
rs1760893
TEP1
0.807 0.080 14 20412501 intron variant C/A snv 0.89 6
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1800871
IL19 ; IL10
0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 108
rs80309960
XRCC5
0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03 4
rs1800797
IL6 ; IL6-AS1 ; STEAP1B
0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 43
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140
rs20576
TNFRSF10A
0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7
0.807 0.160 2 233682328 missense variant CG/AA mnv 8
rs771314938
UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7
0.807 0.160 2 233682328 frameshift variant CG/- del 8
rs879625015
UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8
0.807 0.160 2 233682328 frameshift variant CG/A delins 8
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs1465444723
TCN2
0.827 0.240 22 30610886 missense variant A/G snv 4.0E-06 5
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105