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: rs1057519963
rs1057519963 		0.925 0.080 2 39054637 missense variant T/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519963
rs1057519963 		0.925 0.080 2 39054637 missense variant T/A snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs137852812
rs137852812 		0.851 0.200 2 39051211 missense variant G/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 1.000 5 2007 2010
dbSNP: rs137852812
rs137852812 		0.851 0.200 2 39051211 missense variant G/T 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: rs137852812
rs137852812 		0.851 0.200 2 39051211 missense variant G/T 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: rs137852812
rs137852812 		0.851 0.200 2 39051211 missense variant G/T 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: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 21 2002 2016
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 2002 2016
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;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 0.710 0.875 7 2007 2014
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0424492
Disease: Coarse features
Coarse features 		0.700 1.000 5 2007 2011
dbSNP: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;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: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;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: rs137852813
rs137852813 		0.807 0.200 2 39051202 missense variant A/C;G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
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 8 2007 2014
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs137852814
rs137852814 		0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06
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