MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
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: rs587783733
rs587783733 		1.000 0.120 8 6414778 missense variant T/C snv 2.0E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783739
rs587783739 		1.000 0.120 8 6642993 splice acceptor variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783741
rs587783741 		1.000 0.120 8 6431543 missense variant C/A;T snv
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs748011724
rs748011724 		1.000 0.120 8 6445347 stop gained T/C;G snv 3.2E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs755862917
rs755862917 		1.000 0.120 8 6431567 stop gained C/G snv 8.1E-06
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs766476013
rs766476013 		1.000 0.120 8 6409342 missense variant C/G snv 1.6E-05 7.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1488084787
rs1488084787 		1.000 0.120 8 6414797 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906961
rs387906961 		1.000 0.120 8 6414865 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs753597039
rs753597039 		1.000 0.120 8 6439078 frameshift variant -/A delins 1.2E-05 2.1E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587783735
rs587783735 		1.000 0.120 8 6455186 frameshift variant AT/- del 3.2E-05 4.2E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs541042265
rs541042265 		1.000 0.120 8 6480712 splice acceptor variant A/G snv 1.2E-04 4.9E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs747489687
rs747489687 		0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs747489687
rs747489687 		0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2019
dbSNP: rs747489687
rs747489687 		0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs747489687
rs747489687 		0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2019 2019
dbSNP: rs186046079
rs186046079 		8 6611193 intron variant C/T snv 8.2E-04
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs61749465
rs61749465 		0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465 		0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465 		0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465 		0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465 		0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs185206099
rs185206099 		8 6619777 non coding transcript exon variant G/C snv 2.0E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs76020419
rs76020419 		8 6502768 3 prime UTR variant G/T snv 2.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 2018 2018
dbSNP: rs76020419
rs76020419 		8 6502768 3 prime UTR variant G/T snv 2.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs141416541
rs141416541 		8 6494184 non coding transcript exon variant C/T snv 2.7E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017