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rs930557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs930557(C;C)
Make rs930557(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position6444662
GeneMCPH1
is asnp
is mentioned by
dbSNPrs930557
ebirs930557
HLIrs930557
Exacrs930557
Varsomers930557
Maprs930557
PheGenIrs930557
hapmaprs930557
1000 genomesrs930557
hgdprs930557
ensemblrs930557
gopubmedrs930557
geneviewrs930557
scholarrs930557
googlers930557
pharmgkbrs930557
gwascentralrs930557
openSNPrs930557
23andMers930557
23andMe allrs930557
SNP Nexus

SNPshotrs930557
SNPdbers930557
MSV3drs930557
GWAS Ctlgrs930557
GMAF0.3163
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene MCPH1
allele C
frequency 0.783
sift
HuRef 1103652231665
Disease Association 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.



Neighborrs2515569
Distance235
[PMID 22529908OA-icon.png] The Derived Allele of ASPM Is Associated with Lexical Tone Perception


ClinVar
Risk rs930557(C;C)
Alt rs930557(C;C)
Reference rs930557(G;G)
Significance Probable-non-pathogenic
Disease Primary autosomal recessive microcephaly 1 not specified
Variation info
Gene MCPH1
CLNDBN Primary autosomal recessive microcephaly 1 not specified
Reversed 0
HGVS NC_000008.10:g.6302183G>C
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020903.1, RCV000146337.1,



[PMID 19687126OA-icon.png] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.


[PMID 20080800OA-icon.png] Sex-dependent association of common variants of microcephaly genes with brain structure.


GET Evidence
MCPH1-D266H
aa_change Asp266His
aa_change_short D266H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary