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: 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: 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: rs301805
rs301805 		1.000 0.080 1 8420956 intron variant T/G snv 0.65
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs301806
rs301806 		0.851 0.120 1 8422018 intron variant C/T snv 0.62
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
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: 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: 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: 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: rs301805
rs301805 		1.000 0.080 1 8420956 intron variant T/G snv 0.65
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs301816
rs301816 		1.000 0.080 1 8444998 intron variant G/A snv 0.55
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs301817
rs301817 		0.925 0.120 1 8443319 intron variant C/A;G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2013 2013
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: 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: rs159962
rs159962 		1 8430923 intron variant C/T snv 0.30
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		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: 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: rs2252865
rs2252865 		0.851 0.040 1 8362616 intron variant T/C snv 0.72
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
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: rs301806
rs301806 		0.851 0.120 1 8422018 intron variant C/T snv 0.62
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6670508
rs6670508 		1 8587858 intron variant G/A;C snv 0.62
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
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: 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