Source: ALL
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: rs137853292
rs137853292
RB1
1 1.000 0.080 13 48452997 missense variant C/T snv 0.800 1.000 19 1989 2017
dbSNP: rs200844292
rs200844292
RB1 ; LOC112268118
1 1.000 0.080 13 48364961 missense variant G/A snv 3.7E-04 2.8E-04 0.700 1.000 19 1989 2017
dbSNP: rs767011440
rs767011440
RB1 ; LOC112268118
1 1.000 0.080 13 48368550 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 19 1989 2017
dbSNP: rs3092902
rs3092902
RB1
1 1.000 0.080 13 48345110 missense variant A/T snv 3.4E-04 3.9E-04 0.700 1.000 6 2004 2017
dbSNP: rs1566234123
rs1566234123
RB1
1 1.000 0.080 13 48456342 frameshift variant -/A delins 0.700 1.000 5 2005 2015
dbSNP: rs587776787
rs587776787
RB1
1 1.000 0.080 13 48463835 missense variant G/A;T snv 0.700 1.000 5 1997 2012
dbSNP: rs1555284956
rs1555284956
RB1
1 1.000 0.080 13 48362957 missense variant G/A;C snv 0.700 1.000 4 2001 2015
dbSNP: rs1566192530
rs1566192530
RB1
1 1.000 0.080 13 48362865 frameshift variant AACAG/- delins 0.700 1.000 3 1997 2015
dbSNP: rs1461382798
rs1461382798
RB1 ; LOC112268118
1 1.000 0.080 13 48380164 splice acceptor variant G/A;T snv 0.700 1.000 2 2005 2007
dbSNP: rs1555286250
rs1555286250
RB1 ; LOC112268118
1 1.000 0.080 13 48377034 missense variant G/C snv 0.700 1.000 2 2008 2011
dbSNP: rs1555286568
rs1555286568
RB1 ; LOC112268118
1 1.000 0.080 13 48380051 splice acceptor variant A/C;G snv 0.700 1.000 2 2007 2016
dbSNP: rs1555294636
rs1555294636
RB1
1 1.000 0.080 13 48465370 splice donor variant T/C snv 0.700 1.000 2 2007 2011
dbSNP: rs1555295354
rs1555295354
RB1
1 1.000 0.080 13 48476843 missense variant G/A snv 0.700 1.000 2 2014 2016
dbSNP: rs1566194415
rs1566194415
RB1 ; LOC112268118
1 1.000 0.080 13 48367606 splice region variant A/G snv 0.700 1.000 2 2003 2008
dbSNP: rs121913298
rs121913298
RB1
1 1.000 0.080 13 48349012 stop gained T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1258442224
rs1258442224
RB1 ; LOC112268118
1 1.000 0.080 13 48381245 splice acceptor variant A/C;T snv 8.6E-06 0.700 1.000 1 2007 2007
dbSNP: rs137853297
rs137853297
RB1
1 1.000 0.080 13 48456207 stop gained T/A snv 0.710 1.000 1 2006 2006
dbSNP: rs1555282775
rs1555282775
RB1
1 1.000 0.080 13 48342617 stop gained A/T snv 0.700 1.000 1 2006 2006
dbSNP: rs1555282811
rs1555282811
RB1
1 1.000 0.080 13 48342717 splice region variant A/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1566187856
rs1566187856
RB1
1 1.000 0.080 13 48347864 splice donor variant G/A snv 0.700 1.000 1 2000 2000
dbSNP: rs1566194323
rs1566194323
RB1 ; LOC112268118
1 1.000 0.080 13 48367502 frameshift variant TTCT/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1566196458
rs1566196458
RB1 ; LOC112268118
1 1.000 0.080 13 48373460 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1566199059
rs1566199059
RB1 ; LOC112268118
1 1.000 0.080 13 48380185 frameshift variant TT/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1566235470
rs1566235470
RB1
1 1.000 0.080 13 48459792 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1566235515
rs1566235515
RB1
1 1.000 0.080 13 48459835 splice donor variant T/C snv 0.700 1.000 1 2007 2007