Source: CLINVAR

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: rs121913461
rs121913461
ABL1
0.851 0.120 9 130862970 missense variant T/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 16 2002 2014
dbSNP: rs121913449
rs121913449
ABL1
1.000 0.080 9 130862977 missense variant A/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 10 2001 2014
dbSNP: rs121913450
rs121913450
ABL1
1.000 0.080 9 130873016 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 8 2002 2014
dbSNP: rs121913453
rs121913453
ABL1
1.000 0.080 9 130862962 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 8 2002 2014
dbSNP: rs121913455
rs121913455
ABL1
1.000 0.080 9 130862955 missense variant C/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 6 2003 2014
dbSNP: rs121913458
rs121913458
ABL1
1.000 0.080 9 130862969 missense variant G/C;T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 6 2002 2014
dbSNP: rs1057519758
rs1057519758
ABL1
1.000 0.080 9 130872153 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 5 2004 2014
dbSNP: rs121913459
rs121913459
ABL1
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 		0.700 1.000 3 2002 2014
dbSNP: rs121913461
rs121913461
ABL1
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 		0.700 1.000 3 2002 2014
dbSNP: rs1057519772
rs1057519772
ABL1
1.000 0.080 9 130872895 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774
ABL1
1.000 0.080 9 130872902 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
ABL1
1.000 0.080 9 130873028 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 1 2011 2011
dbSNP: rs1060499547
rs1060499547
ABL1
1.000 9 130862890 missense variant A/G snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.700 1.000 1 2017 2017
dbSNP: rs1060499547
rs1060499547
ABL1
1.000 9 130862890 missense variant A/G snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		0.700 1.000 1 2017 2017
dbSNP: rs1060499547
rs1060499547
ABL1
1.000 9 130862890 missense variant A/G snv
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0026034
Disease: Microstomia
Microstomia 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423757
Disease: Thin skin
Thin skin 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 1.000 1 2017 2017