Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11801299
LOC105371692
0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 9
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins 8
rs34743033
TYMSOS ; TYMS
0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 8
rs769412
MDM2
0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 6
rs70991108
MSH3 ; DHFR
0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 6
rs137853294
RB1
0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 6
rs587776783
LOC112268118 ; RB1
0.851 0.200 13 48373493 splice donor variant G/A snv 5
rs1290923018
ZNRD2 ; ZNRD2-AS1 ; FAM89B
0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 5
rs121913304
RB1 ; LOC112268118
0.925 0.080 13 48381414 stop gained C/T snv 4
rs2270744
MYH10
1.000 0.080 17 8490582 intron variant G/C snv 0.36 0.35 3
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
rs759338099
CDK6
0.925 0.160 7 92833212 missense variant G/C snv 4.1E-06 2
rs121913300
LOC112268118 ; RB1
1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05 2
rs121913301
LOC112268118 ; RB1
1.000 0.080 13 48368549 stop gained C/T snv 2
rs398123331
LOC112268118 ; RB1
1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06 2
rs587776782
LOC112268118 ; RB1
1.000 0.080 13 48367604 splice donor variant G/A;T snv 2
rs587776788
LOC112268118 ; RB1
1.000 0.080 13 48380179 inframe deletion ACA/- delins 2
rs587778844
LOC112268118 ; RB1
1.000 0.080 13 48367575 frameshift variant A/- delins 2
rs587781256
LOC112268118 ; RB1
1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins 2
rs9568036
LPAR6 ; RB1
1.000 0.080 13 48397800 intron variant G/A;T 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
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