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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, MCPH1-AS1
is asnp
is mentioned by
dbSNPrs1057090
dbSNP (old)rs1057090
ClinGenrs1057090
ebirs1057090
HLIrs1057090
Exacrs1057090
Gnomadrs1057090
Varsomers1057090
LitVarrs1057090
Maprs1057090
PheGenIrs1057090
Biobankrs1057090
1000 genomesrs1057090
hgdprs1057090
ensemblrs1057090
gopubmedrs1057090
geneviewrs1057090
scholarrs1057090
googlers1057090
pharmgkbrs1057090
gwascentralrs1057090
openSNPrs1057090
23andMers1057090
23andMe allrs1057090
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



ClinVar
Risk rs1057090(A;A) rs1057090(G;G) rs1057090(T;T)
Alt rs1057090(A;A) rs1057090(G;G) rs1057090(T;T)
Reference Rs1057090(C;C)
Significance Non-pathogenic
Disease not specified Primary autosomal recessive microcephaly 1 Primary Microcephaly
Variation info
Gene MCPH1-AS1 MCPH1
CLNDBN not specified Primary autosomal recessive microcephaly 1 Primary Microcephaly, Recessive
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, RCV000295113.1,



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



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