MBD5, methyl-CpG binding domain protein 5, 55777

N. diseases: 120; N. variants: 31
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: rs1553518509
rs1553518509 		1.000 0.040 2 148468916 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 11 2007 2016
dbSNP: rs139953766
rs139953766 		1.000 0.160 2 148469905 missense variant C/A;T snv 3.6E-05
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs139964770
rs139964770 		1.000 0.160 2 148469325 missense variant G/A snv 3.9E-04 4.1E-04
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs145475623
rs145475623 		1.000 0.160 2 148489474 missense variant C/T snv 4.8E-04 3.3E-04
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs1553517991
rs1553517991 		1.000 0.160 2 148463920 splice donor variant G/A snv
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2013 2014
dbSNP: rs1553518402
rs1553518402 		1.000 0.160 2 148468374 missense variant C/T snv
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs576930680
rs576930680 		1.000 0.160 2 148469906 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs769330358
rs769330358 		1.000 0.160 2 148483160 missense variant G/A snv 1.2E-05 2.8E-05
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2007 2012
dbSNP: rs1015096
rs1015096 		0.925 0.120 2 148024789 intron variant T/C snv 0.33
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1015096
rs1015096 		0.925 0.120 2 148024789 intron variant T/C snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10928378
rs10928378 		2 148170400 intron variant A/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs12105411
rs12105411 		2 148043161 intron variant C/G;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1234413
rs1234413 		2 148086800 intron variant C/T snv 0.45
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs1234423
rs1234423 		2 148044333 intron variant A/G snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12992412
rs12992412 		1.000 0.080 2 148035096 intron variant A/C;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13007770
rs13007770 		0.925 0.120 2 148026755 non coding transcript exon variant C/T snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13007770
rs13007770 		0.925 0.120 2 148026755 non coding transcript exon variant C/T snv 0.33
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1377454
rs1377454 		2 148179801 intron variant G/T snv 0.40
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1553518509
rs1553518509 		1.000 0.040 2 148468916 stop gained C/T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1975748
rs1975748 		0.925 0.120 2 148019290 intron variant A/C snv 0.33
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1975748
rs1975748 		0.925 0.120 2 148019290 intron variant A/C snv 0.33
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2890915
rs2890915 		0.925 0.120 2 148031974 intron variant C/T snv 0.32
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2890915
rs2890915 		0.925 0.120 2 148031974 intron variant C/T snv 0.32
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1060501151
rs1060501151 		1.000 0.160 2 148512906 frameshift variant C/-;CC delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060501153
rs1060501153 		1.000 0.160 2 148470239 frameshift variant AACT/- delins
CUI: C1969562
Disease: Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0