rs587783735

Orientation

plus

Stabilized

plus

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

Make rs587783735(-;-)

Make rs587783735(-;AT)

Reference

GRCh38.p2 38.2/144

Chromosome

8

Position

6455186

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs587783735
dbSNP (classic)	rs587783735
ClinGen	rs587783735
ebi	rs587783735
HLI	rs587783735
Exac	rs587783735
Gnomad	rs587783735
Varsome	rs587783735
LitVar	rs587783735
Map	rs587783735
PheGenI	rs587783735
Biobank	rs587783735
1000 genomes	rs587783735
hgdp	rs587783735
ensembl	rs587783735
geneview	rs587783735
scholar	rs587783735
google	rs587783735
pharmgkb	rs587783735
gwascentral	rs587783735
openSNP	rs587783735
23andMe	rs587783735
SNPshot	rs587783735
SNPdbe	rs587783735
MSV3d	rs587783735
GWAS Ctlg	rs587783735

Max Magnitude

0

ClinVar
Risk	rs587783735(-;-)
Alt	rs587783735(-;-)
Reference	Rs587783735(AT;AT)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 1
Variation	info
Gene	MCPH1
CLNDBN	Primary autosomal recessive microcephaly 1
Reversed	0
HGVS	NC_000008.10:g.6312707_6312708delAT
CLNSRC
CLNACC	RCV000146285.1,