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: rs121908501
rs121908501 		0.925 0.240 17 42210189 missense variant C/G snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 3 2003 2012
dbSNP: rs11079041
rs11079041 		0.882 0.040 17 42262061 intron variant T/A;C snv 0.36
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs6503691
rs6503691 		0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2015
dbSNP: rs6503691
rs6503691 		0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2015
dbSNP: rs11079041
rs11079041 		0.882 0.040 17 42262061 intron variant T/A;C snv 0.36
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs11079041
rs11079041 		0.882 0.040 17 42262061 intron variant T/A;C snv 0.36
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs11079041
rs11079041 		0.882 0.040 17 42262061 intron variant T/A;C snv 0.36
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs113461014
rs113461014 		0.925 0.200 17 42232124 missense variant C/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs113461014
rs113461014 		0.925 0.200 17 42232124 missense variant C/T snv
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12150495
rs12150495 		17 42236412 intron variant G/A snv 5.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs121908501
rs121908501 		0.925 0.240 17 42210189 missense variant C/G snv
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1475711023
rs1475711023 		1.000 0.120 17 42224855 missense variant C/T snv 1.4E-05
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6503691
rs6503691 		0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6503691
rs6503691 		0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		Infections; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6503691
rs6503691 		0.827 0.200 17 42242072 intron variant C/T snv 0.26
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7207591
rs7207591 		17 42262844 intron variant A/G snv 0.33
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs761761205
rs761761205 		1.000 0.120 17 42218218 frameshift variant G/-;GG delins
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs8066625
rs8066625 		1.000 0.080 17 42238611 intron variant G/A;T snv
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C0263662
Disease: Disseminated eosinophilic collagen disease
Disseminated eosinophilic collagen disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs938448224
rs938448224 		0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019