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: 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: 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: 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: rs34269918
rs34269918 		1.000 0.040 1 8364925 intron variant A/- delins 0.69
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs302714
rs302714 		1 8426071 intron variant A/C snv 0.27
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs172531
rs172531 		1.000 0.040 1 8435530 intron variant A/G snv 0.31
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs159960
rs159960 		1 8416368 intron variant A/G snv 0.45
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs301798
rs301798 		1.000 0.040 1 8428505 non coding transcript exon variant A/G snv 0.30
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs301798
rs301798 		1.000 0.040 1 8428505 non coding transcript exon variant A/G snv 0.30
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
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: rs301819
rs301819 		0.882 0.120 1 8441726 intron variant A/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs301807
rs301807 		0.925 0.080 1 8424763 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2018 2018
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: rs301819
rs301819 		0.882 0.120 1 8441726 intron variant A/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs301819
rs301819 		0.882 0.120 1 8441726 intron variant A/G;T snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2019 2019
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: 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: rs301803
rs301803 		1 8438620 intron variant A/T snv 0.30
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 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: 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: 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: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019