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: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2014 2015
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs121913377
rs121913377
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
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: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2011 2014
dbSNP: rs1131691014
rs1131691014
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: rs878854066
rs878854066
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
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 2010 2014
dbSNP: rs1801133
rs1801133
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: rs1799782
rs1799782
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: rs1052133
rs1052133
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: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
0.494 0.840 7 22727026 intron variant C/G snv 0.71
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 2009 2018
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: rs25489
rs25489
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
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: 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: rs11615
rs11615
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
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: rs34637584
rs34637584
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2012 2018
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2013 2013
dbSNP: rs121912438
rs121912438
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 14 1997 2013
dbSNP: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2008 2008