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: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.800 0.943 105 2001 2020
dbSNP: rs1060499547
rs1060499547 		1.000 9 130862890 missense variant A/G snv
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.800 0
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4539857
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		0.800 0
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: 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: rs1057519771
rs1057519771 		1.000 0.080 9 130872201 missense variant G/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.730 1.000 4 2009 2019
dbSNP: rs387906517
rs387906517 		0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.730 1.000 4 2006 2013
dbSNP: rs121913460
rs121913460 		0.925 0.080 9 130862971 missense variant A/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.720 1.000 6 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: 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: 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: 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
dbSNP: rs1057519773
rs1057519773 		0.851 0.160 9 130872901 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 2 2008 2011
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: 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: 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: rs121913455
rs121913455 		1.000 0.080 9 130862955 missense variant C/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 6 2003 2014
dbSNP: rs121913458
rs121913458 		1.000 0.080 9 130862969 missense variant G/C;T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 6 2002 2014
dbSNP: rs1057519758
rs1057519758 		1.000 0.080 9 130872153 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 5 2004 2014
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2002 2014
dbSNP: rs121913461
rs121913461 		0.851 0.120 9 130862970 missense variant T/C snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2002 2014
dbSNP: rs1057519772
rs1057519772 		1.000 0.080 9 130872895 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774 		1.000 0.080 9 130872902 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775 		1.000 0.080 9 130873028 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011