RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
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: rs1064793252
rs1064793252 		1.000 1 8358216 protein altering variant -/AGGTGG delins
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs1321809020
rs1321809020 		1.000 1 8358216 missense variant T/C snv
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C4022661
Disease: Hyperconvex toenail
Hyperconvex toenail 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1553154130
rs1553154130 		0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557461427
rs1557461427 		1.000 1 8656049 frameshift variant -/T delins
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs1557582259
rs1557582259 		1.000 1 8358232 missense variant G/A snv
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs1557582271
rs1557582271 		1.000 1 8358235 missense variant A/G snv
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs765016528
rs765016528 		1.000 1 8365848 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0
dbSNP: rs869312871
rs869312871 		1.000 1 8358242 missense variant G/T snv
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		0.700 0