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: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs113994088
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 0
dbSNP: rs113994089
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs113994091
rs113994091
ALK
0.882 0.160 2 29222407 missense variant G/A;C snv 3.2E-05
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 1.000 0 2008 2011
dbSNP: rs113994092
rs113994092
ALK
1.000 2 29209873 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 1.000 0 2008 2011
dbSNP: rs281864719
rs281864719
ALK
0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 1.000 0 2008 2011
dbSNP: rs281864720
rs281864720
ALK
0.925 0.040 2 29213994 missense variant A/C;G;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 1.000 0 2008 2011
dbSNP: rs863225281
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 0
dbSNP: rs863225282
rs863225282
ALK
1.000 2 29214009 missense variant A/C snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs863225283
rs863225283
ALK
0.925 0.080 2 29213993 missense variant A/C snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs863225284
rs863225284
ALK
1.000 2 29213992 missense variant G/C;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs863225285
rs863225285
ALK
0.851 0.080 2 29209789 missense variant T/G snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0