Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 1
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 3
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 17
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 23
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 17
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1126809
LOC107984363 ; TYR
0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 20
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 13
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 16
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 6
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 1
rs2228479
MC1R
0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 1
rs2293152
STAT3
0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 1
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 9
rs80359601
BRCA2
0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 8
rs12210050
LOC105374875
0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 5
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 5