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: rs204926
rs204926
LMO1 ; LOC105376536
3 0.882 0.080 11 8233559 intron variant G/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs2302616
rs2302616
ODC1 ; SNORA80B ; ODC1-DT
3 0.882 0.080 2 10448065 intron variant C/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2619046
rs2619046
DDX4
3 0.882 0.080 5 55801706 intron variant G/A snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs3176752
rs3176752
XPA
3 0.882 0.080 9 97675205 3 prime UTR variant G/T snv 3.8E-02 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs372572360
rs372572360
MAVS
3 0.882 0.080 20 3864633 missense variant G/A snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3738888
rs3738888
BARD1
3 0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs3750952
rs3750952
LMO1 ; LOC105376536
3 0.882 0.080 11 8230374 synonymous variant G/C;T snv 0.45; 4.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs3768707
rs3768707
BARD1
3 0.882 0.080 2 214780411 intron variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs3796725
rs3796725
CPZ ; GPR78
3 0.882 0.080 4 8616210 intron variant C/T snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs3796727
rs3796727
CPZ ; GPR78
3 0.882 0.080 4 8611299 intron variant G/A snv 0.26 0.32 0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897
MYCN
3 0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs729147
rs729147
ADH7
3 0.882 0.080 4 99412110 downstream gene variant G/A snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs749242026
rs749242026
PTPRD
3 0.882 0.080 9 8341203 missense variant G/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs75183227
rs75183227
TH
3 0.882 0.080 11 2169790 missense variant C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs758594231
rs758594231
DDX58
3 0.882 0.080 9 32500886 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs765771575
rs765771575
MET
3 0.882 0.080 7 116782017 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs771723690
rs771723690
ARHGAP24
3 0.882 0.080 4 85570622 synonymous variant G/A snv 1.6E-05 0.010 < 0.001 1 2001 2001
dbSNP: rs773249771
rs773249771
ADRA1A
3 0.882 0.080 8 26864314 missense variant T/C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs7973450
rs7973450
KRAS
3 0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs80059929
rs80059929
KIF15
3 0.882 0.080 3 44805230 intron variant T/A snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs867182279
rs867182279
EGFR
3 0.882 0.080 7 55205510 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs9653226
rs9653226
MYCN ; MYCNOS
3 0.882 0.080 2 15939632 intron variant C/T snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs6939340
rs6939340
CASC15 ; NBAT1
4 0.851 0.160 6 22139775 intron variant A/G snv 0.62 0.040 1.000 4 2008 2017
dbSNP: rs221634
rs221634
LIN28B
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.020 1.000 2 2016 2019