Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17860508
LOC285626
0.752 0.360 5 159333192 intron variant TTAGAG/GC delins 11
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs67052019 1.000 0.080 1 109822839 regulatory region variant TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA delins 1
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs796096871
AKAP10
0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs67687202
TGFBR1
1.000 0.080 9 99147870 intron variant TCTTT/- delins 1
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs587776850
CTNNB1
1.000 0.080 3 41224643 inframe deletion TCT/- delins 1
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
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs3212227
IL12B
0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21 38
rs20576
TNFRSF10A
0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs11556218
IL16
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 20
rs6869366
XRCC4 ; TMEM167A
0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs11119608
KCNH1
0.708 0.280 1 210816167 intron variant T/G snv 0.21 17
rs11077
POLR1C ; XPO5
0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 14
rs1237063529
CBS
0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 13