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: rs281864719
rs281864719
ALK
0.846 0.143 2 29220831 missense variant A/C,G,T snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 13 2008 2016
dbSNP: rs863225281
rs863225281
ALK
0.821 0.143 2 29220829 missense variant G/C,T snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 13 2008 2016
dbSNP: rs121912438
rs121912438
0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.100 1.000 12 1997 2013
dbSNP: rs121912431
rs121912431
0.756 0.143 21 31663829 missense variant G/A snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.050 1.000 5 2002 2011
dbSNP: rs113994087
rs113994087
ALK
1.000 0.071 2 29209798 missense variant C/A,T snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.040 1.000 4 2012 2016
dbSNP: rs121917887
rs121917887
0.923 0.071 17 51161744 missense variant A/G snp 6.0E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 1999 2005
dbSNP: rs1799945
rs1799945
0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 2010 2014
dbSNP: rs63750306
rs63750306
0.692 0.357 14 73173663 missense variant A/C,G,T snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.030 1.000 3 1998 2001
dbSNP: rs1800562
rs1800562
0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2013 2015
dbSNP: rs1800795
rs1800795
0.580 0.607 7 22727026 intron variant C/G snp 0.68
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2009 2014
dbSNP: rs202074408
rs202074408
APP
0.801 0.143 21 26000152 missense variant G/A snp 1.6E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2007 2016
dbSNP: rs34725003
rs34725003
APP
0.801 0.143 21 25982424 frameshift variant GG/G in-del
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2007 2016
dbSNP: rs369990738
rs369990738
APP
0.801 0.143 21 25975074 missense variant G/A snp 1.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2007 2016
dbSNP: rs63751163
rs63751163
0.801 0.179 14 73192844 missense variant T/C snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2000 2002
dbSNP: rs6435862
rs6435862
1.000 0.071 2 214807822 intron variant G/A,C,T snp 0.75
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 2010 2013
dbSNP: rs74315406
rs74315406
0.846 0.143 20 4699870 missense variant A/G snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.020 1.000 2 1997 2001
dbSNP: rs1033069
rs1033069
1.000 0.071 2 213900484 intron variant A/G snp 0.58
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2013 2013
dbSNP: rs1045485
rs1045485
0.652 0.393 2 201284866 missense variant G/A,C,T snp 4.0E-06; 9.0E-02 3.2E-05; 9.8E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2015 2015
dbSNP: rs104893855
rs104893855
0.923 0.143 4 41747479 missense variant C/A snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2014 2014
dbSNP: rs104893878
rs104893878
0.744 0.179 4 89835580 missense variant C/G snp
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2009 2009
dbSNP: rs104893936
rs104893936
0.923 0.107 5 176626472 missense variant C/G,T snp 5.6E-05 3.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2007 2007
dbSNP: rs104893937
rs104893937
0.923 0.107 5 176621218 missense variant G/T snp 1.7E-04 3.8E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2007 2007
dbSNP: rs104894103
rs104894103
0.923 0.179 9 32974495 stop gained C/G,T snp 4.0E-06; 1.6E-04 3.8E-04
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2016 2016
dbSNP: rs1059111
rs1059111
1.000 0.071 8 24952575 3 prime UTR variant T/A,G snp 0.78; 3.2E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2015 2015
dbSNP: rs110419
rs110419
1.000 0.071 11 8231306 intron variant A/G snp 0.42
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 1.000 1 2016 2016