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: rs2916733
rs2916733 		0.851 0.120 8 6465757 intron variant G/A snv 0.28
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.810 1.000 1 2011 2011
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: rs138094162
rs138094162 		8 6632047 intron variant T/C;G snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
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
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: 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: rs2442604
rs2442604 		8 6531012 intron variant T/C snv 0.43
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2922895
rs2922895 		8 6522411 intron variant G/C snv 0.41
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs62496903
rs62496903 		8 6589417 intron variant C/T snv 5.0E-02
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
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: rs121434305
rs121434305 		0.925 0.120 8 6409330 stop gained C/G snv 1.2E-05
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434305
rs121434305 		0.925 0.120 8 6409330 stop gained C/G snv 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: 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: rs1554471681
rs1554471681 		1.000 0.120 8 6406691 splice donor variant TGA/- del
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: rs1554496609
rs1554496609 		1.000 0.120 8 6455240 frameshift variant -/CA delins
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: rs199422124
rs199422124 		0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199422125
rs199422125 		0.925 0.120 8 6436147 frameshift variant -/A delins
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: rs199422125
rs199422125 		0.925 0.120 8 6436147 frameshift variant -/A delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs199422125
rs199422125 		0.925 0.120 8 6436147 frameshift variant -/A delins
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201599657
rs201599657 		1.000 0.120 8 6499860 stop gained G/A;T snv 1.1E-04
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: 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: 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: 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: 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