ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994091
rs113994091 		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 4 2008 2011
dbSNP: rs113994092
rs113994092 		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 4 2008 2011
dbSNP: rs281864719
rs281864719 		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 4 2008 2011
dbSNP: rs281864720
rs281864720 		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 4 2008 2011
dbSNP: rs113994088
rs113994088 		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: rs863225281
rs863225281 		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: rs113994087
rs113994087 		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 		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 		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 		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: rs1057520019
rs1057520019 		1.000 2 29222362 missense variant A/C;G snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 1.000 4 2008 2011
dbSNP: rs1057519698
rs1057519698 		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: rs1057519784
rs1057519784 		0.827 0.080 2 29220765 missense variant G/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 3 2012 2014
dbSNP: rs281864720
rs281864720 		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 		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: rs1057519781
rs1057519781 		0.807 0.160 2 29209816 missense variant C/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs1057519782
rs1057519782 		1.000 0.040 2 29220734 missense variant G/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs113994091
rs113994091 		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: rs863225281
rs863225281 		0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 2 2012 2014
dbSNP: rs863225283
rs863225283 		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 		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: rs1057519696
rs1057519696 		1.000 0.040 2 29214054 missense variant C/T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1057519783
rs1057519783 		0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1057519785
rs1057519785 		1.000 0.040 2 29222404 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs1057520019
rs1057520019 		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