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: rs12465752
rs12465752 		2 121355564 intron variant C/T snv 0.12
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4848713
rs4848713 		2 121605302 intron variant C/T snv 0.12
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		0.700 1.000 1 2018 2018
dbSNP: rs62151096
rs62151096 		2 121498964 intron variant G/A snv 3.6E-02
CUI: C3893645
Disease: response to ACE inhibitor
response to ACE inhibitor 		0.700 1.000 1 2017 2017
dbSNP: rs62151109
rs62151109 		2 121644122 intron variant C/T snv 2.5E-02
CUI: C3893645
Disease: response to ACE inhibitor
response to ACE inhibitor 		0.700 1.000 1 2017 2017
dbSNP: rs139495292
rs139495292 		1.000 0.240 2 121530919 non coding transcript exon variant C/G;T snv 7.7E-06; 4.6E-05
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs180755563
rs180755563 		1.000 0.240 2 121530932 non coding transcript exon variant C/A;G;T snv 6.9E-05; 1.6E-04
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs181195449
rs181195449 		1.000 0.240 2 121530929 non coding transcript exon variant G/A;C snv 1.2E-04; 1.5E-05
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs188343279
rs188343279 		0.925 0.360 2 121530930 non coding transcript exon variant G/A snv 4.3E-04 4.5E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs188343279
rs188343279 		0.925 0.360 2 121530930 non coding transcript exon variant G/A snv 4.3E-04 4.5E-04
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs370715569
rs370715569 		1.000 0.240 2 121530887 non coding transcript exon variant C/G;T snv 1.5E-05; 3.9E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs374299350
rs374299350 		1.000 0.240 2 121530909 non coding transcript exon variant G/A;C;T snv 6.1E-05; 1.5E-05
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs377619732
rs377619732 		1.000 0.240 2 121530945 non coding transcript exon variant G/A;C snv 2.8E-04; 7.7E-06
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs544312701
rs544312701 		1.000 0.240 2 121531003 non coding transcript exon variant G/A;T snv
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0