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: rs137853294
rs137853294
RB1
6 0.827 0.200 13 48459708 missense variant C/T snv 1.6E-05 0.800 1.000 26 1989 2017
dbSNP: rs137853292
rs137853292
RB1
1 1.000 0.080 13 48452997 missense variant C/T snv 0.800 1.000 19 1989 2017
dbSNP: rs137853296
rs137853296
RB1
3 1.000 0.080 13 48463758 missense variant T/C snv 0.800 1.000 13 1989 2001
dbSNP: rs1131690863
rs1131690863
RB1
2 1.000 0.080 13 48362847 stop gained C/T snv 0.700 1.000 10 1994 2016
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
2 1.000 0.080 13 48368549 stop gained C/T snv 0.700 1.000 8 1995 2016
dbSNP: rs587778850
rs587778850
RB1
2 1.000 0.080 13 48473391 splice donor variant G/A;T snv 0.700 1.000 8 2003 2017
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 7 1994 2017
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
2 1.000 0.080 13 48379594 stop gained C/T snv 4.0E-06 0.700 1.000 7 1989 2016
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
2 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 6 1994 2016
dbSNP: rs137853293
rs137853293
RB1
2 1.000 0.080 13 48465238 stop gained C/T snv 0.700 1.000 5 1989 2015
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: rs587778842
rs587778842
RB1
2 1.000 0.080 13 48362859 stop gained C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1131690882
rs1131690882
RB1
2 1.000 0.080 13 48465112 splice donor variant G/A;C snv 0.700 1.000 4 2005 2017
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: 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 4 1995 2015
dbSNP: rs587776783
rs587776783
RB1 ; LOC112268118
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 1.000 4 1989 2016
dbSNP: rs1131690852
rs1131690852
RB1 ; RB1-DT
2 1.000 0.080 13 48303925 frameshift variant -/C delins 0.700 1.000 3 2003 2015
dbSNP: rs121913296
rs121913296
RB1
2 1.000 0.080 13 48345108 stop gained G/T snv 0.700 1.000 3 1996 2013
dbSNP: rs121913304
rs121913304
RB1 ; LOC112268118
4 0.925 0.080 13 48381414 stop gained C/T snv 0.700 1.000 3 2013 2015
dbSNP: rs121913305
rs121913305
RB1
2 1.000 0.080 13 48453032 stop gained C/T snv 0.700 1.000 3 2003 2015
dbSNP: rs1566192530
rs1566192530
RB1
1 1.000 0.080 13 48362865 frameshift variant AACAG/- delins 0.700 1.000 3 1997 2015
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.030 1.000 3 2013 2018
dbSNP: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 0.700 1.000 3 2002 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2015 2017