Source: ALL

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: 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: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 1.000 14 1997 2013
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: rs121917887
rs121917887
NME1 ; NME1-NME2
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: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.060 1.000 6 2003 2018
dbSNP: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.050 1.000 5 2003 2018
dbSNP: rs110419
rs110419
LMO1 ; LOC105376536
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: rs63750306
rs63750306
PSEN1
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: 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: rs121912431
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 1.000 4 2002 2011
dbSNP: rs1386984902
rs1386984902
APP
0.790 0.160 21 26000095 missense variant G/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 1.000 4 2006 2020
dbSNP: rs204938
rs204938
LMO1
0.882 0.080 11 8256650 intron variant C/T 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: rs6939340
rs6939340
CASC15 ; NBAT1
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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2017 2019
dbSNP: rs121912443
rs121912443
SOD1
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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2010 2014
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2009 2018
dbSNP: rs2168101
rs2168101
LMO1 ; LOC105376536
0.827 0.200 11 8233861 intron variant C/A snv 0.24
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2018 2020
dbSNP: rs4712653
rs4712653
CASC15
0.882 0.080 6 22125735 intron variant T/C;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2016 2017
dbSNP: rs63749805
rs63749805
PSEN1
0.807 0.120 14 73173577 missense variant C/G;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 1998 2001
dbSNP: rs6435862
rs6435862
BARD1
0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2013 2019
dbSNP: rs9295536
rs9295536
CASC15
0.882 0.080 6 22131700 intron variant C/A snv 0.58
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 1.000 3 2016 2017
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2018 2019