Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10840002
rs10840002
0.882 0.080 11 8221479 downstream gene variant A/G snv 0.49
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.040 1.000 4 2016 2020
dbSNP: rs60226897
rs60226897
0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs729147
rs729147
0.882 0.080 4 99412110 downstream gene variant G/A snv 0.78
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs7652589
rs7652589
0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2017 2017
dbSNP: rs1024611
rs1024611
0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs11669203
rs11669203
0.882 0.080 19 7914916 upstream gene variant G/C snv 0.15
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs12826786
rs12826786
0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs2273267
rs2273267
0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2020 2020
dbSNP: rs3788266
rs3788266
0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs3811464
rs3811464
0.851 0.160 1 26410652 upstream gene variant G/A snv 0.42
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2020 2020
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2012 2012
dbSNP: rs7312175
rs7312175
0.827 0.120 12 25251670 upstream gene variant G/A snv 0.16
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs874945
rs874945
0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs535080528
rs535080528
0.851 0.120 2 69431903 splice region variant T/A;C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2013 2013
dbSNP: rs11103603
rs11103603
0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs221634
rs221634
0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.020 1.000 2 2016 2017
dbSNP: rs1052536
rs1052536
0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs1059111
rs1059111
0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs11247957
rs11247957
0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2020 2020
dbSNP: rs12587
rs12587
0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs17016074
rs17016074
0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2009 2009
dbSNP: rs2229090
rs2229090
XPC
0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs2276466
rs2276466
0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs2979704
rs2979704
0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 1.000 1 2014 2014