rs1057090

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057090(C;T)

Make rs1057090(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6621521

Gene	MCPH1, MCPH1-AS1

is a	snp
is	mentioned by
dbSNP	rs1057090
dbSNP (classic)	rs1057090
ClinGen	rs1057090
ebi	rs1057090
HLI	rs1057090
Exac	rs1057090
Gnomad	rs1057090
Varsome	rs1057090
LitVar	rs1057090
Map	rs1057090
PheGenI	rs1057090
Biobank	rs1057090
1000 genomes	rs1057090
hgdp	rs1057090
ensembl	rs1057090
geneview	rs1057090
scholar	rs1057090
google	rs1057090
pharmgkb	rs1057090
gwascentral	rs1057090
openSNP	rs1057090
23andMe	rs1057090
SNPshot	rs1057090
SNPdbe	rs1057090
MSV3d	rs1057090
GWAS Ctlg	rs1057090

GMAF

0.494

Max Magnitude

0

?	(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.