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rs1057090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057090(C;T)
Make rs1057090(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position6621521
GeneMCPH1
is asnp
is mentioned by
dbSNPrs1057090
ebirs1057090
HLIrs1057090
Exacrs1057090
Varsomers1057090
Maprs1057090
PheGenIrs1057090
hapmaprs1057090
1000 genomesrs1057090
hgdprs1057090
ensemblrs1057090
gopubmedrs1057090
geneviewrs1057090
scholarrs1057090
googlers1057090
pharmgkbrs1057090
gwascentralrs1057090
openSNPrs1057090
23andMers1057090
23andMe allrs1057090
SNP Nexus

SNPshotrs1057090
SNPdbers1057090
MSV3drs1057090
GWAS Ctlgrs1057090
GMAF0.494
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19028548] mentioned as potentially affecting white matter volume, sample size tiny


Venter snp
Source plos
Gene MCPH1
allele T
frequency 0.492
sift TOLERATED
HuRef 1103652232327
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.



ClinVar
Risk rs1057090(A,G,T;A,G,T)
Alt rs1057090(A,G,T;A,G,T)
Reference rs1057090(C;C)
Significance Non-pathogenic
Disease not specified Primary autosomal recessive microcephaly 1
Variation info
Gene MCPH1-AS1 MCPH1
CLNDBN not specified Primary autosomal recessive microcephaly 1
Reversed 0
HGVS NC_000008.10:g.6479042C>A; NC_000008.10:g.6479042C>G; NC_000008.10:g.6479042C>T
CLNSRC HGMD
CLNACC RCV000146303.1, RCV000146304.1, RCV000020900.1, RCV000146305.4,



[PMID 18204051] A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.


GET Evidence
MCPH1-A761V
aa_change Ala761Val
aa_change_short A761V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.407819
summary



[PMID 23296058] MCPH1 protein expression and polymorphisms are associated with risk of breast cancer.