Gene: RB1 ×
Source: INFERRED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 1.000 11 1997 2008
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
2 1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06 0.700 1.000 10 1989 2017
dbSNP: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 1.000 10 1995 2017
dbSNP: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 10 1994 2015
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
2 1.000 0.080 13 48368549 stop gained C/T snv 0.700 1.000 9 1995 2015
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
2 1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06 0.700 1.000 9 1996 2018
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
2 1.000 0.080 13 48367512 stop gained C/G;T snv 1.2E-05 0.700 1.000 8 1994 2017
dbSNP: rs137853293
rs137853293
RB1
2 1.000 0.080 13 48465238 stop gained C/T snv 0.700 1.000 8 1989 2015
dbSNP: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.700 1.000 8 1992 2017
dbSNP: rs1131690863
rs1131690863
RB1
2 1.000 0.080 13 48362847 stop gained C/T snv 0.700 1.000 7 1994 2013
dbSNP: rs1131690858
rs1131690858
RB1
1 13 48473391 splice region variant GAGT/- delins 0.700 1.000 6 1993 2015
dbSNP: rs387906521
rs387906521
RB1 ; RB1-DT
2 1.000 0.080 13 48303715 upstream gene variant G/A snv 0.700 1.000 6 1989 2014
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
2 1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06 0.700 1.000 6 1995 2018
dbSNP: rs121913305
rs121913305
RB1
2 1.000 0.080 13 48453032 stop gained C/T snv 0.700 1.000 5 1996 2016
dbSNP: rs137853296
rs137853296
RB1
2 1.000 0.080 13 48463758 missense variant T/C snv 0.700 1.000 4 1998 2005
dbSNP: rs1131690846
rs1131690846
RB1 ; LOC112268118
1 13 48373424 stop gained C/T snv 0.700 1.000 3 2003 2006
dbSNP: rs1131690907
rs1131690907
RB1
1 13 48307407 splice donor variant G/A snv 0.700 1.000 3 2002 2008
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
2 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 3 2003 2014
dbSNP: rs121913304
rs121913304
RB1 ; LOC112268118
4 0.925 0.080 13 48381414 stop gained C/T snv 0.700 1.000 3 1997 2013
dbSNP: rs764754259
rs764754259
RB1
1 13 48465369 splice donor variant G/A;C snv 0.700 1.000 3 2003 2007
dbSNP: rs776534331
rs776534331
RB1 ; LOC112268118
1 13 48367518 stop gained G/A;T snv 4.0E-06 0.700 1.000 3 1996 2015
dbSNP: rs886042249
rs886042249
RB1
1 13 48465116 splice region variant G/A snv 0.700 1.000 3 2005 2014
dbSNP: rs1131690843
rs1131690843
RB1
2 1.000 0.080 13 48342714 missense variant G/A;C snv 0.700 1.000 2 2005 2015
dbSNP: rs1131690859
rs1131690859
RB1 ; LOC112268118
1 13 48379655 splice region variant G/A snv 0.700 1.000 2 2001 2008
dbSNP: rs1131690902
rs1131690902
RB1
1 13 48342715 splice donor variant G/A snv 0.700 1.000 2 1998 2013