Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
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
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs1801270
CDKN1A
0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv 11
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs1290923018
ZNRD2 ; ZNRD2-AS1 ; FAM89B
0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 5
rs587776783
LOC112268118 ; RB1
0.851 0.200 13 48373493 splice donor variant G/A snv 5
rs121913304
RB1 ; LOC112268118
0.925 0.080 13 48381414 stop gained C/T snv 4
rs137853296
RB1
1.000 0.080 13 48463758 missense variant T/C snv 3
rs587776789
RB1
0.925 0.200 13 48349024 splice donor variant G/A;T snv 3
rs1060503079
RB1 ; LOC112268118
1.000 0.080 13 48377030 stop gained C/A snv 2
rs1131690842
RB1
1.000 0.080 13 48453001 frameshift variant T/- delins 2
rs1131690843
RB1
1.000 0.080 13 48342714 missense variant G/A;C snv 2
rs1131690851
RB1 ; LOC112268118
1.000 0.080 13 48379606 missense variant G/A snv 2