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: 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: 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: 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: 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: 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: 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: 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: rs301806
rs301806 		0.851 0.120 1 8422018 intron variant C/T snv 0.62
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: 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: 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: 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: rs4908508
rs4908508 		1 8740721 intron variant T/C snv 0.20
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs55823627
rs55823627 		1 8402019 intron variant C/T snv 0.14
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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
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: 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: 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