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: 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: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0
dbSNP: rs121913461
rs121913461 		0.851 0.120 9 130862970 missense variant T/C snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0
dbSNP: rs387906516
rs387906516 		9 130862920 missense variant A/T snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0
dbSNP: rs387906517
rs387906517 		0.827 0.120 9 130862919 missense variant G/A snv
CUI: C4016396
Disease: LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB 		0.700 0
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
dbSNP: rs1060499547
rs1060499547 		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 		1.000 9 130862890 missense variant A/G snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499547
rs1060499547 		1.000 9 130862890 missense variant A/G snv
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0026034
Disease: Microstomia
Microstomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 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: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4317152
Disease: Dimple chin
Dimple chin 		0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017