Source: CLINVAR

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: rs113994087
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 6 2008 2016
dbSNP: rs281864719
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 6 1990 2016
dbSNP: rs863225281
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 6 2008 2016
dbSNP: rs1057519697
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 4 2008 2016
dbSNP: rs1057519698
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 3 2008 2011
dbSNP: rs281864720
rs281864720
ALK
0.925 0.040 2 29213994 missense variant A/C;G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 3 2008 2011
dbSNP: rs863225285
rs863225285
ALK
0.851 0.080 2 29209789 missense variant T/G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 3 2008 2011
dbSNP: rs113994091
rs113994091
ALK
0.882 0.160 2 29222407 missense variant G/A;C snv 3.2E-05
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 2 2011 2011
dbSNP: rs863225283
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 2 2011 2011
dbSNP: rs863225284
rs863225284
ALK
1.000 2 29213992 missense variant G/C;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 2 2011 2011
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
0.851 0.200 8 127738390 missense variant C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519919
rs1057519919
MYCN ; MYCNOS
0.851 0.160 2 15942195 missense variant C/T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519933
rs1057519933
PIK3CA
0.790 0.240 3 179199156 missense variant A/G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519934
rs1057519934
PIK3CA
0.790 0.240 3 179199158 missense variant G/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519935
rs1057519935
PIK3CA
0.790 0.240 3 179199157 missense variant A/G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057520019
rs1057520019
ALK
1.000 2 29222362 missense variant A/C;G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs113994088
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs113994089
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs113994092
rs113994092
ALK
1.000 2 29209873 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs121908163
rs121908163
KIF1B
1 10345943 missense variant C/T snv 2.0E-04 5.6E-05
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2008 2008
dbSNP: rs121918453
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs121918464
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016