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: rs878853011
rs878853011 		1.000 1 8360361 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: rs878853252
rs878853252 		1.000 1 8361236 frameshift variant -/CTGGAGGAGCTGAGGAGGGAGC 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: rs748735395
rs748735395 		1.000 0.200 1 8360264 synonymous variant C/A;G;T snv 2.3E-05; 5.2E-05
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs751043542
rs751043542 		1.000 0.080 1 8362754 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs781019481
rs781019481 		1.000 0.080 1 8362757 missense variant C/A;T snv 3.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4908760
rs4908760 		1.000 0.040 1 8466082 intron variant G/A snv 0.68
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2012
dbSNP: rs301819
rs301819 		0.882 0.120 1 8441726 intron variant A/G;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
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: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs774429615
rs774429615 		1.000 0.120 1 8358814 missense variant C/T snv 4.0E-06
CUI: C0039128
Disease: Syphilis
Syphilis 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs301797
rs301797 		1.000 0.040 1 8427263 intron variant C/A snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2015 2019
dbSNP: rs159963
rs159963 		1.000 0.040 1 8444361 intron variant C/A snv 0.52
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
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: rs301806
rs301806 		0.851 0.120 1 8422018 intron variant C/T snv 0.62
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs301807
rs301807 		0.925 0.080 1 8424763 intron variant A/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs301807
rs301807 		0.925 0.080 1 8424763 intron variant A/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs301807
rs301807 		0.925 0.080 1 8424763 intron variant A/G;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs34976449
rs34976449 		1 8438266 3 prime UTR variant -/G delins 0.66
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4908769
rs4908769 		1 8641229 intron variant C/T snv 0.27
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs878853270
rs878853270 		1.000 1 8358750 missense variant G/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 1.000 1 2016 2016