Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs2270744
MYH10
1.000 0.080 17 8490582 intron variant G/C snv 0.36 0.35 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
rs10748
RBL2
1.000 0.080 16 53470809 synonymous variant T/C snv 0.44 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
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
rs1131690901
RB1 ; LOC112268118
1.000 0.080 13 48364897 frameshift variant A/- delins 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
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
rs121913302
RB1 ; LOC112268118
1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06 2
rs121913303
RB1 ; LOC112268118
1.000 0.080 13 48381402 stop gained C/T snv 2
rs121913305
RB1
1.000 0.080 13 48453032 stop gained C/T snv 2
rs137853293
RB1
1.000 0.080 13 48465238 stop gained C/T snv 2
rs1555279210
RB1-DT ; RB1
1.000 0.080 13 48303957 frameshift variant -/GGAACCCCCGGCACCGCCGCCGC delins 2