rs587783741

Orientation

plus

Stabilized

plus

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

Make rs587783741(A;A)

Make rs587783741(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

6431543

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs587783741
dbSNP (classic)	rs587783741
ClinGen	rs587783741
ebi	rs587783741
HLI	rs587783741
Exac	rs587783741
Gnomad	rs587783741
Varsome	rs587783741
LitVar	rs587783741
Map	rs587783741
PheGenI	rs587783741
Biobank	rs587783741
1000 genomes	rs587783741
hgdp	rs587783741
ensembl	rs587783741
geneview	rs587783741
scholar	rs587783741
google	rs587783741
pharmgkb	rs587783741
gwascentral	rs587783741
openSNP	rs587783741
23andMe	rs587783741
SNPshot	rs587783741
SNPdbe	rs587783741
MSV3d	rs587783741
GWAS Ctlg	rs587783741

Max Magnitude

0

ClinVar
Risk	rs587783741(A;A)
Alt	rs587783741(A;A)
Reference	Rs587783741(C;C)
Significance	Probable-Pathogenic
Disease	Primary autosomal recessive microcephaly 1
Variation	info
Gene	MCPH1
CLNDBN	Primary autosomal recessive microcephaly 1
Reversed	0
HGVS	NC_000008.10:g.6289064C>A
CLNSRC
CLNACC	RCV000146324.1,