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: 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: rs1800609
rs1800609 		1.000 0.040 9 130855797 intron variant T/C snv 0.16
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2260323
rs2260323 		1.000 0.040 9 130825399 intron variant T/C snv 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1210484348
rs1210484348 		0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0265950
Disease: Venous malformation
Venous malformation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
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: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A 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: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1210484348
rs1210484348 		0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 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: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548 		0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries 0.700 1.000 1 2017 2017
dbSNP: rs1210484348
rs1210484348 		0.925 0.080 9 130884973 missense variant C/T snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
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: rs1314838108
rs1314838108 		0.925 0.160 9 130854977 missense variant G/A snv 7.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs4740363
rs4740363 		1.000 0.080 9 130753797 intron variant A/G snv 7.8E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
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: rs1192565382
rs1192565382 		0.925 0.080 9 130884389 missense variant C/T snv 4.1E-06
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121913454
rs121913454 		0.925 0.080 9 130874969 missense variant A/G snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121913459
rs121913459 		0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014