Source: CLINVAR ×
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: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 0 2007 2011
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553353452
rs1553353452 		1.000 0.160 2 39007033 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 0.700 0
dbSNP: rs1553354396
rs1553354396 		1.000 2 39012309 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 2002 2016
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2007 2010
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 0 2007 2011
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs267607079
rs267607079 		0.776 0.240 2 39022772 missense variant C/A;G snv
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		0.700 0
dbSNP: rs267607080
rs267607080 		0.925 0.160 2 39023134 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2007 2011
dbSNP: rs267607080
rs267607080 		0.925 0.160 2 39023134 missense variant A/G snv
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 0 2007 2011