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: rs11121210
rs11121210 		1 8648470 intron variant T/C snv 0.65
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11121240
rs11121240 		1.000 0.080 1 8834298 intron variant A/T snv 0.51
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11581328
rs11581328 		1 8447713 intron variant G/A snv 0.16
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12025126
rs12025126 		0.925 0.040 1 8699495 intron variant T/C snv 0.26
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		Eye Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs12025126
rs12025126 		0.925 0.040 1 8699495 intron variant T/C snv 0.26
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 < 0.001 1 2012 2012
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: rs138050288
rs138050288 		1.000 0.120 1 8400188 intron variant CA/- del 0.22
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs142472947
rs142472947 		1 8460428 intron variant AAG/- delins 0.16
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
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