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: rs1057090
rs1057090 		0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057090
rs1057090 		0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1057090
rs1057090 		0.925 0.080 8 6621521 missense variant C/A;G;T snv 4.0E-06; 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13269021
rs13269021 		0.925 0.040 8 6539242 intron variant G/A;T snv
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13269021
rs13269021 		0.925 0.040 8 6539242 intron variant G/A;T snv
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.010 1.000 1 2017 2017
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: rs1868554
rs1868554 		1.000 0.040 8 6529226 intron variant T/A;C;G snv
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs199422124
rs199422124 		0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-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: rs2912016
rs2912016 		0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016 		0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2912016
rs2912016 		0.925 0.080 8 6621657 synonymous variant C/A;G snv 0.36; 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs767741751
rs767741751 		0.851 0.120 8 6562846 missense variant C/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
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: 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