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: 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: 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: 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: 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: rs11247957
rs11247957
LIN28A
0.882 0.080 1 26429683 3 prime UTR variant G/A snv 0.21
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2020 2020
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: rs34787247
rs34787247
LIN28A
0.851 0.200 1 26428582 3 prime UTR variant A/C;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2020 2020
dbSNP: rs3811463
rs3811463
LIN28A
0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2020 2020
dbSNP: rs3811464
rs3811464
LIN28A
0.851 0.160 1 26410652 upstream gene variant G/A snv 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2020 2020
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: 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: 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: 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
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: rs217727
rs217727
MRPL23 ; H19 ; HOTS
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270
MRPL23 ; H19 ; HOTS
0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 0.500 2 2019 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: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2019 2019
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 1.000 2 2016 2019
dbSNP: rs1024611
rs1024611 		0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019