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: rs138686455
rs138686455
SLC11A2
0.851 0.120 12 51005330 missense variant C/G snv 3.6E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs1415224147
rs1415224147
MAPKAP1
0.882 0.080 9 125585715 missense variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs1438259227
rs1438259227
PRKN
0.827 0.080 6 162443428 missense variant T/A snv 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1438565133
rs1438565133
SLC1A3
0.827 0.120 5 36674078 missense variant C/G snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2005 2005
dbSNP: rs143864187
rs143864187
CASP4
0.882 0.080 11 104949666 missense variant C/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2010 2010
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: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs145976111
rs145976111
ITGB4
0.882 0.080 17 75742728 missense variant C/T snv 2.9E-03 2.3E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs1468034466
rs1468034466
TFRC
0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs147480547
rs147480547
ITGB4
0.882 0.080 17 75740047 missense variant G/A;T snv 1.1E-03; 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
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: rs1481318368
rs1481318368
TH
0.827 0.120 11 2169802 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2003 2003
dbSNP: rs148634289
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1501899
rs1501899
CASR
0.790 0.240 3 122188481 intron variant A/G snv 0.62
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2017 2017
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: rs17065417
rs17065417
LIN28B
0.882 0.080 6 104958399 intron variant A/C snv 0.10
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2012 2012
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: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
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: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs1899663
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs201668878
rs201668878
UBE4A
0.882 0.080 11 118373576 missense variant T/C snv 1.7E-04 1.0E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2006 2006
dbSNP: rs201698323
rs201698323
SCN10A
0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2016 2016