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: 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: 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: 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: 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: rs121908502
rs121908502 		1.000 0.120 17 42223478 stop gained G/A snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
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: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C3150077
Disease: Mild short stature
Mild short stature 		0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555548678
rs1555548678 		0.925 0.160 17 42216054 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555548680
rs1555548680 		1.000 0.120 17 42216066 missense variant T/C snv
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555549674
rs1555549674 		0.882 0.240 17 42223402 missense variant T/G snv
CUI: C0236175
Disease: Increased IgE level
Increased IgE level 		0.700 0
dbSNP: rs1555549674
rs1555549674 		0.882 0.240 17 42223402 missense variant T/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 0.700 0