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: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
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: rs1362575880
rs1362575880
0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs17065417
rs17065417
0.882 0.080 6 104958399 intron variant A/C snv 0.10
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2012 2012
dbSNP: rs4796030
rs4796030
0.827 0.120 17 35003131 3 prime UTR variant A/C snv 0.66
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2019 2019
dbSNP: rs74315352
rs74315352
0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2005 2005
dbSNP: rs13034994
rs13034994
0.882 0.080 2 15938513 non coding transcript exon variant A/C;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs34787247
rs34787247
0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2020 2020
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: rs63750306
rs63750306
0.701 0.320 14 73173663 missense variant A/C;G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.050 1.000 5 1998 2013
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs587781960
rs587781960
0.882 0.080 22 28689164 missense variant A/C;G;T snv 1.3E-05; 7.3E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2005 2005
dbSNP: rs786203436
rs786203436
0.701 0.280 17 7675125 missense variant A/C;G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 < 0.001 1 2001 2001
dbSNP: rs2273267
rs2273267
0.882 0.080 1 114716848 upstream gene variant A/C;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2020 2020
dbSNP: rs2273535
rs2273535
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs121917887
rs121917887
0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.080 1.000 8 1995 2018
dbSNP: rs110419
rs110419
0.827 0.200 11 8231306 intron variant A/G snv 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.050 1.000 5 2015 2020
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: rs6939340
rs6939340
0.851 0.160 6 22139775 intron variant A/G snv 0.62
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 1.000 4 2008 2017
dbSNP: rs121912443
rs121912443
0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 1999 2007
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: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2014 2015
dbSNP: rs17489363
rs17489363
0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2018 2019
dbSNP: rs201216664
rs201216664
0.851 0.080 17 51171503 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 1995 1999
dbSNP: rs74315406
rs74315406
0.851 0.160 20 4699870 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 1997 2000