Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2762932
CYP24A1
0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 3
rs10887710 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 2
rs1547374
LOC105372815
0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 2
rs1486134 1.000 0.120 2 67412637 downstream gene variant G/C;T snv 1
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs1182933
C12orf43
1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26 3
rs1552462 0.925 0.120 11 7235910 upstream gene variant C/T snv 2.7E-02 2
rs2816938 1.000 0.120 1 200016240 upstream gene variant T/A snv 0.37 2
rs35226131
TERT
1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02 2
rs9581943
PDX1
1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs31490
CLPTM1L
0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 8
rs1555162597
ACVR1B
1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1322648460
LOC100507144 ; CD44
0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins 5
rs397518443
STK11
0.925 0.200 19 1222998 frameshift variant AA/-;A delins 2
rs387906389
ACVR1B
1.000 0.120 12 51986840 frameshift variant GATGA/- del 1
rs397518442
STK11
1.000 0.120 19 1220630 frameshift variant C/- delins 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs6214
LINC02456 ; HELLPAR ; IGF1
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 26
rs3217992
CDKN2B-AS1 ; CDKN2B
0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 22
rs3749474
TMEM165 ; CLOCK
0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 17