rs12674488

Orientation

plus

Stabilized

plus

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

Make rs12674488(A;A)

Make rs12674488(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6480785

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs12674488
dbSNP (classic)	rs12674488
ClinGen	rs12674488
ebi	rs12674488
HLI	rs12674488
Exac	rs12674488
Gnomad	rs12674488
Varsome	rs12674488
LitVar	rs12674488
Map	rs12674488
PheGenI	rs12674488
Biobank	rs12674488
1000 genomes	rs12674488
hgdp	rs12674488
ensembl	rs12674488
geneview	rs12674488
scholar	rs12674488
google	rs12674488
pharmgkb	rs12674488
gwascentral	rs12674488
openSNP	rs12674488
23andMe	rs12674488
SNPshot	rs12674488
SNPdbe	rs12674488
MSV3d	rs12674488
GWAS Ctlg	rs12674488

GMAF

0.1396

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

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

ClinVar
Risk	rs12674488(A;A) rs12674488(G;G)
Alt	rs12674488(A;A) rs12674488(G;G)
Reference	Rs12674488(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Primary Microcephaly
Variation	info
Gene	MCPH1
CLNDBN	not specified Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000008.10:g.6338306C>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000146289.1, RCV000301716.1,