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: rs121913302
rs121913302
2 1.000 0.080 13 48379624 stop gained C/T snv 7.0E-06 0.710 1.000 7 1996 2016
dbSNP: rs137853297
rs137853297
RB1
1 1.000 0.080 13 48456207 stop gained T/A snv 0.710 1.000 1 2006 2006
dbSNP: rs483352690
rs483352690
RB1
1 1.000 0.080 13 48456349 missense variant G/A;C snv 0.710 1.000 1 2011 2011
dbSNP: rs200844292
rs200844292
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
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: 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
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
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
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
2 1.000 0.080 13 48381402 stop gained C/T snv 0.700 1.000 6 1994 2016
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: 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
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
5 0.851 0.200 13 48373493 splice donor variant G/A snv 0.700 1.000 4 1989 2016
dbSNP: rs1131690852
rs1131690852
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