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
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv 11
rs1380576
MDM4
0.763 0.240 1 204519150 intron variant G/C snv 0.57 10
rs11801299
LOC105371692
0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 9
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
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
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
rs1074182
RBL2
1.000 0.080 16 53437445 intron variant T/G snv 0.55 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
rs1131690852
RB1 ; RB1-DT
1.000 0.080 13 48303925 frameshift variant -/C delins 2
rs1131690860
RB1 ; LOC112268118
1.000 0.080 13 48367493 splice acceptor variant G/A;T snv 2
rs1131690863
RB1
1.000 0.080 13 48362847 stop gained C/T snv 2
rs1131690864
RB1
1.000 0.080 13 48362953 missense variant A/G snv 2