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: rs748343847
rs748343847
PINK1 ; MIR6084
0.827 0.080 1 20633708 missense variant G/A snv 6.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs749098599
rs749098599
TP73
0.882 0.080 1 3683085 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2001 2001
dbSNP: rs774005786
rs774005786
PARK7
0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2005 2005
dbSNP: rs781734330
rs781734330
ATP13A2
0.851 0.080 1 16995981 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
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: 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: rs17489363
rs17489363
BARD1 ; SNHG31
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: rs3768716
rs3768716
BARD1
0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2016 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: rs1045485
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1048108
rs1048108
BARD1 ; SNHG31
0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 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: rs121908513
rs121908513
SPAST
0.807 0.280 2 32116145 missense variant T/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: rs3768707
rs3768707
BARD1
0.882 0.080 2 214780411 intron variant A/G snv 0.74
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs535080528
rs535080528
NFU1
0.851 0.120 2 69431903 splice region variant T/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
0.827 0.200 2 15939643 intron variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs60226897
rs60226897
MYCN
0.882 0.080 2 15947252 downstream gene variant G/A snv 4.3E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs9653226
rs9653226
MYCN ; MYCNOS
0.882 0.080 2 15939632 intron variant C/T snv 0.54
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018