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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 1.000 4 2016 2020
dbSNP: rs4758051
rs4758051
0.882 0.080 11 8217092 intergenic variant G/A snv 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 1.000 4 2016 2020
dbSNP: rs11994014
rs11994014
0.827 0.200 8 24944767 intergenic variant A/G snv 0.70
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2014 2018
dbSNP: rs1024611
rs1024611
0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs1027702
rs1027702
0.882 0.080 1 161743067 intergenic variant C/T snv 0.51
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2017 2017
dbSNP: rs11103603
rs11103603
0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs12442054
rs12442054
0.882 0.080 15 74165683 intron variant G/A snv 0.12
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs12826786
rs12826786
0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs7652589
rs7652589
0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2017 2017
dbSNP: rs874945
rs874945
0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs45511401
rs45511401
0.851 0.120 16 16079375 missense variant G/T snv 3.8E-02 3.6E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs514049
rs514049
0.827 0.160 15 58750164 intron variant C/A snv 0.57
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2012 2012
dbSNP: rs653765
rs653765
0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2012 2012
dbSNP: rs2271338
rs2271338
0.827 0.080 4 61996533 intron variant G/A snv 0.26
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs729147
rs729147
0.882 0.080 4 99412110 downstream gene variant G/A snv 0.78
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs773249771
rs773249771
0.882 0.080 8 26864314 missense variant T/C snv 1.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2008 2008
dbSNP: rs1442511697
rs1442511697
0.882 0.080 2 96115494 missense variant T/C snv 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2008 2008
dbSNP: rs281864719
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 15 2008 2019
dbSNP: rs113994087
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 0.900 10 2011 2019
dbSNP: rs863225285
rs863225285
ALK
0.851 0.080 2 29209789 missense variant T/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2017 2018
dbSNP: rs1057519697
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs121909536
rs121909536
0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs121909539
rs121909539
0.827 0.120 14 20693753 missense variant C/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019