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: rs13034994
rs13034994
MYCNOS
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: rs138085133
rs138085133
EXTL1 ; LOC101928216
0.882 0.080 1 26022729 missense variant C/G;T snv 8.4E-04; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2004 2004
dbSNP: rs1415224147
rs1415224147
MAPKAP1
0.882 0.080 9 125585715 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs143864187
rs143864187
CASP4
0.882 0.080 11 104949666 missense variant C/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2010 2010
dbSNP: rs1442511697
rs1442511697
ADRA2B
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: rs145976111
rs145976111
ITGB4
0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs147480547
rs147480547
ITGB4
0.882 0.080 17 75740047 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs147992979
rs147992979
NTRK3
0.882 0.080 15 88184270 missense variant G/A snv 8.0E-05 4.4E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs17016074
rs17016074
SNCA
0.851 0.080 4 89726127 3 prime UTR variant G/A snv 4.7E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2009 2009
dbSNP: rs17065417
rs17065417
LIN28B
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: rs17487792
rs17487792
BARD1
0.882 0.080 2 214778776 intron variant C/T snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs201668878
rs201668878
UBE4A
0.882 0.080 11 118373576 missense variant T/C snv 1.7E-04 1.0E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs204926
rs204926
LMO1 ; LOC105376536
0.882 0.080 11 8233559 intron variant G/A snv 0.41
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs2271338
rs2271338
ADGRL3
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: rs2273267
rs2273267
NRAS ; CSDE1
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: rs2302616
rs2302616
ODC1 ; SNORA80B ; ODC1-DT
0.882 0.080 2 10448065 intron variant C/A snv 0.26
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs2619046
rs2619046
DDX4
0.882 0.080 5 55801706 intron variant G/A snv 0.34
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs28938172
rs28938172
PARK7
0.790 0.080 1 7984981 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2005 2005
dbSNP: rs3176752
rs3176752
XPA
0.882 0.080 9 97675205 3 prime UTR variant G/T snv 3.8E-02 2.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs34995376
rs34995376
LRRK2
0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs35850753
rs35850753
TP53
0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs372572360
rs372572360
MAVS
0.882 0.080 20 3864633 missense variant G/A snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs3738888
rs3738888
BARD1
0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs3750952
rs3750952
LMO1 ; LOC105376536
0.882 0.080 11 8230374 synonymous variant G/C;T snv 0.45; 4.8E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018