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: rs1052536
rs1052536
LIG3
0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs11103603
rs11103603 		0.851 0.080 9 134449754 TF binding site variant T/C snv 0.46
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
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: rs121909536
rs121909536
ANG ; RNASE4
0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs121909539
rs121909539
ANG ; RNASE4
0.827 0.120 14 20693753 missense variant C/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs12442054
rs12442054 		0.882 0.080 15 74165683 intron variant G/A snv 0.12
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs12587
rs12587
KRAS
0.827 0.200 12 25205894 3 prime UTR variant T/G snv 0.49
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs1362575880
rs1362575880
PSEN1
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: 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: rs1760944
rs1760944
APEX1 ; OSGEP
0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs2153977
rs2153977
MAGI3
0.807 0.240 1 113537449 intron variant C/T snv 0.28
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs28933981
rs28933981
TTR
0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs3136817
rs3136817
APEX1 ; OSGEP
0.732 0.280 14 20456275 intron variant T/C snv 0.23
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
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: rs4796030
rs4796030
LIG3
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: rs6776706
rs6776706
RARB
0.851 0.080 3 25439731 intron variant T/A snv 0.27
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
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: rs7312175
rs7312175
KRAS
0.827 0.120 12 25251670 upstream gene variant G/A snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
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: rs758576072
rs758576072
RIMS2
0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs7973450
rs7973450
KRAS
0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019