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: rs729147
rs729147
ADH7
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: rs1800975
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
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: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
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: rs3784730
rs3784730
ST8SIA2
0.851 0.120 15 92443898 intron variant A/G snv 0.44
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2016 2016
dbSNP: rs2168351
rs2168351
ST8SIA2
0.851 0.120 15 92440492 intron variant A/G snv 0.33
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2016 2016
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: 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: 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: rs63750355
rs63750355
CHMP2B
0.827 0.160 3 87253472 stop gained C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs3796725
rs3796725
CPZ ; GPR78
0.882 0.080 4 8616210 intron variant C/T snv 0.23
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3796727
rs3796727
CPZ ; GPR78
0.882 0.080 4 8611299 intron variant G/A snv 0.26 0.32
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs369576054
rs369576054
MAPK10 ; ARHGAP24
0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2001 2001
dbSNP: rs377522479
rs377522479
ARHGAP24
0.882 0.080 4 85931021 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2001 2001
dbSNP: rs771723690
rs771723690
ARHGAP24
0.882 0.080 4 85570622 synonymous variant G/A snv 1.6E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2001 2001
dbSNP: rs749242026
rs749242026
PTPRD
0.882 0.080 9 8341203 missense variant G/T snv 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
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: 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: 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: rs110420
rs110420
LMO1 ; LOC105376536
0.882 0.080 11 8231502 intron variant T/C snv 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
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: 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
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