Source: ALL
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 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs79071878
LOC105379176 ; IL4
0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del 7
rs779315943
DNMT3A
0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
rs5030625
CDH1
0.882 0.160 16 68736944 upstream gene variant A/- del 0.80 3
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
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
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18
rs10680577
RAB4B-EGLN2 ; EGLN2
0.776 0.160 19 40798690 intron variant -/TACT delins 10
rs180177133
PALB2
0.807 0.240 16 23614089 frameshift variant T/- delins 1.2E-05 1.4E-05 9
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs1555515731
CDH1
0.882 0.160 16 68812189 frameshift variant T/- delins 4
rs17103265
NFKBIA
0.925 0.080 14 35405503 upstream gene variant A/- delins 3
rs199971565
MIR302A ; MIR302D ; MIR302CHG ; MIR302C ; LARP7 ; MIR367 ; MIR302B
0.925 0.080 4 112648384 mature miRNA variant ACTT/- delins 2.1E-02 3
rs768231616
CYP1A2
0.882 0.120 15 74750069 frameshift variant CT/- delins 4.0E-06 3
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246