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: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2010 2010
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
dbSNP: rs1050717570
rs1050717570
RB1 ; LOC112268118
1 1.000 0.080 13 48381393 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs1059234
rs1059234
CDKN1A
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1060503067
rs1060503067
RB1
1 1.000 0.080 13 48459756 stop gained G/T snv 0.700 0
dbSNP: rs1060503074
rs1060503074
RB1 ; LOC112268118
1 1.000 0.080 13 48373494 splice donor variant T/G snv 0.700 0
dbSNP: rs1060503075
rs1060503075
RB1
1 1.000 0.080 13 48463818 frameshift variant CCTC/- del 0.700 0
dbSNP: rs1060503077
rs1060503077
RB1 ; LOC112268118
1 1.000 0.080 13 48367521 stop gained G/T snv 0.700 0
dbSNP: rs1060503079
rs1060503079
RB1 ; LOC112268118
2 1.000 0.080 13 48377030 stop gained C/A snv 0.700 0
dbSNP: rs1060503087
rs1060503087
RB1 ; LOC112268118
1 1.000 0.080 13 48379651 splice donor variant G/T snv 0.700 0
dbSNP: rs1060503088
rs1060503088
RB1
1 1.000 0.080 13 48452981 intron variant T/G snv 0.700 0
dbSNP: rs1064792974
rs1064792974
RB1 ; RB1-DT
1 1.000 0.080 13 48303948 frameshift variant GCCGCCGCTGCCGCCGCGGAACCCCCGGC/- delins 0.700 0
dbSNP: rs1074182
rs1074182
RBL2
2 1.000 0.080 16 53437445 intron variant T/G snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs10748
rs10748
RBL2
2 1.000 0.080 16 53470809 synonymous variant T/C snv 0.44 0.55 0.010 1.000 1 2009 2009
dbSNP: rs1131690842
rs1131690842
RB1
2 1.000 0.080 13 48453001 frameshift variant T/- delins 0.700 0
dbSNP: rs1131690843
rs1131690843
RB1
2 1.000 0.080 13 48342714 missense variant G/A;C snv 0.700 0
dbSNP: rs1131690851
rs1131690851
RB1 ; LOC112268118
2 1.000 0.080 13 48379606 missense variant G/A snv 0.700 1.000 2 2007 2017
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: rs1131690860
rs1131690860
RB1 ; LOC112268118
2 1.000 0.080 13 48367493 splice acceptor variant G/A;T snv 0.700 1.000 2 2007 2016
dbSNP: rs1131690863
rs1131690863
RB1
2 1.000 0.080 13 48362847 stop gained C/T snv 0.700 1.000 10 1994 2016
dbSNP: rs1131690864
rs1131690864
RB1
2 1.000 0.080 13 48362953 missense variant A/G snv 0.700 1.000 2 2011 2013
dbSNP: rs1131690881
rs1131690881
RB1
2 1.000 0.080 13 48473395 splice region variant G/A;T snv 0.700 1.000 2 2005 2017
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: rs1131690901
rs1131690901
RB1 ; LOC112268118
2 1.000 0.080 13 48364897 frameshift variant A/- delins 0.700 1.000 2 2014 2017