Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs1927911
TLR4
0.658 0.640 9 117707776 intron variant A/G snv 0.62 28
rs11536889
TLR4
0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 27
rs2814778
CADM3-AS1 ; ACKR1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 24
rs776746
CYP3A5 ; ZSCAN25
0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
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
rs72661131
MBL2
0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 15
rs4135385
CTNNB1
0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 14
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs562962093
MBL2
0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 13
rs4969170
LOC101928674
0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 11
rs563558831
CYP2B6
0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 11
rs1556620697
SH2D1A ; STAG2
0.827 0.360 X 124365758 splice region variant C/G snv 10
rs1135840
NDUFA6-DT ; CYP2D6
0.807 0.200 22 42126611 missense variant C/G snv 0.58 8
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs371194629
HLA-G
0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 8
rs4124874
UGT1A5 ; UGT1A4 ; UGT1A7 ; LOC100286922 ; UGT1A8 ; UGT1A10 ; UGT1A3 ; UGT1A6 ; UGT1A9
0.851 0.120 2 233757013 intron variant T/A;G snv 8
rs6790
GAS5 ; SNORD47 ; SNORD78 ; SNORD79 ; SNORD81 ; SNORD80 ; SNORD44
0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 7
rs879255237
VPS45
0.807 0.160 1 150077763 missense variant C/A snv 7