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: 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: 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: 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: rs387906518
rs387906518 		1.000 0.080 2 38995220 frameshift variant -/G delins
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T 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: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 0
dbSNP: rs397517148
rs397517148 		0.776 0.200 2 39023128 missense variant C/T snv
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.700 0