Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs121913304
RB1 ; LOC112268118
0.925 0.080 13 48381414 stop gained C/T snv 4
rs1221157259
RB1
0.882 0.080 13 48453069 missense variant C/T snv 4.0E-06 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
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
rs2227311
LPAR6 ; RB1
0.925 0.080 13 48412896 5 prime UTR variant A/G snv 0.11 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
rs1131690881
RB1
1.000 0.080 13 48473395 splice region variant G/A;T snv 2
rs1131690882
RB1
1.000 0.080 13 48465112 splice donor variant G/A;C snv 2
rs1131690908
RB1
1.000 0.080 13 48473383 stop gained C/A;G snv 2
rs121913296
RB1
1.000 0.080 13 48345108 stop gained G/T snv 2
rs121913297
RB1
1.000 0.080 13 48465028 stop gained G/A;T snv 2
rs121913305
RB1
1.000 0.080 13 48453032 stop gained C/T snv 2