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: 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: 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: 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: 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: 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: rs2339469
rs2339469
ALK
2 29315994 intron variant G/A snv 0.31
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs4146673
rs4146673
ALK
2 29359567 intron variant T/C snv 0.65
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
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: 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: 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: 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: rs1057519782
rs1057519782
ALK
1.000 0.040 2 29220734 missense variant G/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 2 2012 2014
dbSNP: rs1057519696
rs1057519696
ALK
1.000 0.040 2 29214054 missense variant C/T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.700 1.000 1 2012 2012
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: rs80270335
rs80270335
ALK
1.000 0.040 2 29393789 intron variant C/T snv 6.5E-02
CUI: C0011334
Disease: Dental caries
Dental caries 		0.700 1.000 1 2019 2019
dbSNP: rs746442213
rs746442213
ALK
1.000 0.040 2 29232307 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.700 0
dbSNP: rs1057519784
rs1057519784
ALK
0.827 0.080 2 29220765 missense variant G/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 3 2012 2014
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: 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