Source: BEFREE

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: rs10055201
rs10055201
IL31RA
0.882 0.080 5 55865274 intron variant A/G snv 0.76
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
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
dbSNP: rs1027702
rs1027702 		0.882 0.080 1 161743067 intergenic variant C/T snv 0.51
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
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: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2016 2016
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: rs104893855
rs104893855
PHOX2B ; PHOX2B-AS1
0.851 0.160 4 41747479 missense variant C/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs104893856
rs104893856
PHOX2B
0.827 0.080 4 41746162 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs104893936
rs104893936
SNCB
0.851 0.120 5 176626472 missense variant C/G;T snv 5.6E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2007 2007
dbSNP: rs104893937
rs104893937
SNCB
0.851 0.120 5 176621218 missense variant G/T snv 1.7E-04 2.0E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2007 2007
dbSNP: rs104894103
rs104894103
APTX
0.807 0.280 9 32974495 stop gained C/G;T snv 4.0E-06; 1.6E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
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: 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: 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: rs1057520018
rs1057520018
STK11
0.807 0.080 19 1223124 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs1059111
rs1059111
NEFL
0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs10895322
rs10895322
MMP20
0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs11037575
rs11037575
HSD17B12
0.882 0.080 11 43706780 intron variant T/C snv 0.36
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
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: 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: rs11134527
rs11134527
SLIT3 ; MIR218-2
0.677 0.400 5 168768351 intron variant G/A snv 0.25
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
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: 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