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: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.100 1.000 18 2004 2018
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.100 1.000 13 2009 2018
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.060 1.000 6 2009 2020
dbSNP: rs121913448
rs121913448 		0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs121913452
rs121913452 		0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121913452
rs121913452 		0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1332884
Disease: Central nervous system leukaemia
Central nervous system leukaemia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913461
rs121913461 		0.851 0.120 9 130862970 missense variant T/C snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121913461
rs121913461 		0.851 0.120 9 130862970 missense variant T/C snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs387906517
rs387906517 		0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs773795578
rs773795578 		1.000 0.040 9 130714356 missense variant A/G snv 4.0E-06
CUI: C1266065
Disease: Eccrine porocarcinoma
Eccrine porocarcinoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.800 0.943 105 2001 2020
dbSNP: rs121913448
rs121913448 		0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.730 1.000 18 2001 2014
dbSNP: rs121913461
rs121913461 		0.851 0.120 9 130862970 missense variant T/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 16 2002 2014
dbSNP: rs121913457
rs121913457 		1.000 0.080 9 130873004 missense variant T/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 15 2002 2014
dbSNP: rs121913452
rs121913452 		0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.740 1.000 14 2003 2014
dbSNP: rs121913451
rs121913451 		0.851 0.160 9 130872903 missense variant C/A;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 12 2002 2014
dbSNP: rs121913449
rs121913449 		1.000 0.080 9 130862977 missense variant A/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 10 2001 2014
dbSNP: rs121913456
rs121913456 		1.000 0.080 9 130862943 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 10 2002 2014
dbSNP: rs121913450
rs121913450 		1.000 0.080 9 130873016 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453 		1.000 0.080 9 130862962 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 8 2002 2014
dbSNP: rs121913454
rs121913454 		0.925 0.080 9 130874969 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 8 2002 2016