{{Rsnum
|rsid=1057090
|Gene=MCPH1
|Chromosome=8
|position=6621521
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.494
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MCPH1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 31.2 | 49.1 | 19.6
| HCB | 17.0 | 43.0 | 40.0
| JPT | 6.2 | 47.8 | 46.0
| YRI | 34.0 | 44.9 | 21.1
| ASW | 32.1 | 42.9 | 25.0
| CHB | 17.0 | 43.0 | 40.0
| CHD | 8.3 | 48.6 | 43.1
| GIH | 25.7 | 48.5 | 25.7
| LWK | 16.5 | 53.2 | 30.3
| MEX | 43.1 | 41.4 | 15.5
| MKK | 32.3 | 43.9 | 23.9
| TSI | 44.1 | 43.1 | 12.7
| HapMapRevision=28
}}{{PMID|19028548}} mentioned as potentially affecting white matter volume, sample size tiny

{{Venter SNP
|rsid=1057090
|allele=T
|frequency=0.492
|uid=1103652232327
|type=heterozygous_SNP
|hugo=MCPH1
|ensembl gene=ENSG00000147316
|ensembl transcript=ENST00000344683
|sift=TOLERATED
|disease=Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) (MIM:606858). PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.
}}

{{ClinVar
|rsid=1057090
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=6479042
|CHROM=8
|GMAF=0.4936
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05036800000015051f100101
|GENEINFO=MCPH1:79648
|GENE_NAME=MCPH1
|GENE_ID=79648
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.6479042C>T
|CLNSIG=2
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.506; 0.494
|CLNACC=RCV000020900.1
|CLNDBN=Primary autosomal recessive microcephaly 1
|CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet
|CLNDSDBID=NBK9587:C1855081:251200:606858:2512
|CLNSRC=GeneReviews
|CLNSRCID=NBK9587
|COMMON=1
|Disease=Primary autosomal recessive microcephaly 1
}}

{{PMID Auto
|PMID=18204051
|Title=A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.
}}

{{GET Evidence
|gene=MCPH1
|aa_change=Ala761Val
|aa_change_short=A761V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1057090
|overall_frequency_n=4256
|overall_frequency_d=10436
|overall_frequency=0.407819
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23296058
|Title=MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}