rs1057091

Orientation

plus

Stabilized

plus

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

Make rs1057091(C;T)

Make rs1057091(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6643023

Gene	MCPH1, MCPH1-AS1

is a	snp
is	mentioned by
dbSNP	rs1057091
dbSNP (classic)	rs1057091
ClinGen	rs1057091
ebi	rs1057091
HLI	rs1057091
Exac	rs1057091
Gnomad	rs1057091
Varsome	rs1057091
LitVar	rs1057091
Map	rs1057091
PheGenI	rs1057091
Biobank	rs1057091
1000 genomes	rs1057091
hgdp	rs1057091
ensembl	rs1057091
geneview	rs1057091
scholar	rs1057091
google	rs1057091
pharmgkb	rs1057091
gwascentral	rs1057091
openSNP	rs1057091
23andMe	rs1057091
SNPshot	rs1057091
SNPdbe	rs1057091
MSV3d	rs1057091
GWAS Ctlg	rs1057091

GMAF

0.2254

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs1057091(T;T)
Alt	rs1057091(T;T)
Reference	Rs1057091(C;C)
Significance	Probable-non-pathogenic
Disease	Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly
Variation	info
Gene	MCPH1-AS1 MCPH1
CLNDBN	Primary autosomal recessive microcephaly 1 not specified Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000008.10:g.6500544C>T
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020901.1, RCV000146321.2, RCV000361851.1,