Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11288072
EBF1
1.000 0.080 5 159008453 intron variant A/- del 0.25 1
rs146817970
ATG10
1.000 0.080 5 82217129 intron variant A/- del 0.19 1
rs2307561
AQP4-AS1 ; CHST9
1.000 0.080 18 26923543 intron variant AGTGTT/- del 0.28 1
rs5837757 1.000 0.080 2 200849597 upstream gene variant A/- del 0.15 1
rs67958007 1.000 0.080 10 9046151 intergenic variant G/- del 0.12 1
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs145204276
ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs3783553
IL1A
0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs8175347
UGT1A9 ; UGT1A1 ; UGT1A6 ; UGT1A10 ; UGT1A8 ; UGT1A3 ; UGT1A5 ; UGT1A7 ; UGT1A4
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 15
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 9
rs397508986
BRCA1
0.807 0.280 17 43092919 frameshift variant G/AA delins 9
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins 8
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs80357610
BRCA1
0.851 0.160 17 43094550 frameshift variant GT/- delins 7
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 7
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs1114167628
PTEN
0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 5
rs28381975
PDCD6IP ; LOC105377023
0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 5
rs3842530
MIR205 ; MIR205HG
0.827 0.120 1 209432292 non coding transcript exon variant GCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA delins 5