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rs12674488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs12674488(A;A)
Make rs12674488(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position6480785
GeneMCPH1
is asnp
is mentioned by
dbSNPrs12674488
ebirs12674488
HLIrs12674488
Exacrs12674488
Varsomers12674488
Maprs12674488
PheGenIrs12674488
hapmaprs12674488
1000 genomesrs12674488
hgdprs12674488
ensemblrs12674488
gopubmedrs12674488
geneviewrs12674488
scholarrs12674488
googlers12674488
pharmgkbrs12674488
gwascentralrs12674488
openSNPrs12674488
23andMers12674488
23andMe allrs12674488
SNP Nexus

SNPshotrs12674488
SNPdbers12674488
MSV3drs12674488
GWAS Ctlgrs12674488
GMAF0.1396
Max Magnitude0
? (A;A) (A;C) (C;C) 28

[PMID 19028548] mentioned as potentially affecting grey matter volume, sample size tiny


Venter snp
Source plos
Gene MCPH1
allele A
frequency 0.158
sift TOLERATED
HuRef 1103652231789
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.



GET Evidence
MCPH1-T682N
aa_change Thr682Asn
aa_change_short T682N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.130933
summary



ClinVar
Risk rs12674488(A,G;A,G)
Alt rs12674488(A,G;A,G)
Reference rs12674488(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MCPH1
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.6338306C>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000146289.1,