Source: CURATED

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: 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: 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: rs1057519785
rs1057519785
ALK
1.000 0.040 2 29222404 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs1057519697
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 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: rs1057520019
rs1057520019
ALK
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: 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: 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: 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 4 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 4 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: 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 4 2008 2011
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: rs11903143
rs11903143
ALK
2 29369594 intron variant A/G snv 0.28
CUI: C2825895
Disease: Granulocyte Colony Stimulating Factor Measurement
Granulocyte Colony Stimulating Factor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs187926838
rs187926838
ALK
1.000 0.120 2 29595425 intron variant A/G snv 6.4E-03
CUI: C3541994
Disease: Drug Hypersensitivity Syndrome
Drug Hypersensitivity Syndrome 		0.700 1.000 1 2019 2019
dbSNP: rs187926838
rs187926838
ALK
1.000 0.120 2 29595425 intron variant A/G snv 6.4E-03
CUI: C1869024
Disease: Severe cutaneous adverse reactions (SMQ)
Severe cutaneous adverse reactions (SMQ) 		0.700 1.000 1 2019 2019
dbSNP: rs187926838
rs187926838
ALK
1.000 0.120 2 29595425 intron variant A/G snv 6.4E-03
CUI: C2004491
Disease: Cicatrix
Cicatrix 		0.700 1.000 1 2019 2019
dbSNP: rs6731759
rs6731759
ALK
1.000 2 29804123 intron variant A/G snv 0.42
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs6731759
rs6731759
ALK
1.000 2 29804123 intron variant A/G snv 0.42
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs6731759
rs6731759
ALK
1.000 2 29804123 intron variant A/G snv 0.42
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs6731759
rs6731759
ALK
1.000 2 29804123 intron variant A/G snv 0.42
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs6731759
rs6731759
ALK
1.000 2 29804123 intron variant A/G snv 0.42
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
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: rs1057519698
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.700 0