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: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs1380576
rs1380576
MDM4
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1566235470
rs1566235470
RB1
1 1.000 0.080 13 48459792 stop gained C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs768305224
rs768305224
RB1
2 1.000 0.080 13 48360053 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs9568036
rs9568036
RB1 ; LPAR6
2 1.000 0.080 13 48397800 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.030 1.000 3 2016 2018
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2270744
rs2270744
MYH10
3 1.000 0.080 17 8490582 intron variant G/C snv 0.36 0.35 0.010 1.000 1 2016 2016
dbSNP: rs34743033
rs34743033
TYMS ; TYMSOS
8 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 0.010 1.000 1 2016 2016
dbSNP: rs427686
rs427686
RB1
1 1.000 0.080 13 48384180 intron variant C/T snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs769412
rs769412
MDM2
6 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2016 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
dbSNP: rs1131690901
rs1131690901
RB1 ; LOC112268118
2 1.000 0.080 13 48364897 frameshift variant A/- delins 0.700 1.000 2 2014 2017
dbSNP: rs1555295354
rs1555295354
RB1
1 1.000 0.080 13 48476843 missense variant G/A snv 0.700 1.000 2 2014 2016
dbSNP: rs121913298
rs121913298
RB1
1 1.000 0.080 13 48349012 stop gained T/A snv 0.700 1.000 1 2014 2014
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: rs587779349
rs587779349
BRCA2
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2014 2014
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: 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: 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: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2012 2016