rs199422125

Orientation

plus

Stabilized

plus

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

Make rs199422125(-;A)

Make rs199422125(A;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6436153

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs199422125
dbSNP (classic)	rs199422125
ClinGen	rs199422125
ebi	rs199422125
HLI	rs199422125
Exac	rs199422125
Gnomad	rs199422125
Varsome	rs199422125
LitVar	rs199422125
Map	rs199422125
PheGenI	rs199422125
Biobank	rs199422125
1000 genomes	rs199422125
hgdp	rs199422125
ensembl	rs199422125
geneview	rs199422125
scholar	rs199422125
google	rs199422125
pharmgkb	rs199422125
gwascentral	rs199422125
openSNP	rs199422125
23andMe	rs199422125
SNPshot	rs199422125
SNPdbe	rs199422125
MSV3d	rs199422125
GWAS Ctlg	rs199422125

Max Magnitude

0

ClinVar
Risk	rs199422125(A;A)
Alt	rs199422125(A;A)
Reference	Rs199422125(-;-)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 1 Abnormality of brain morphology
Variation	info
Gene	MCPH1
CLNDBN	Primary autosomal recessive microcephaly 1 Abnormality of brain morphology
Reversed	0
HGVS	NC_000008.10:g.6293674dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003619.2, RCV000454240.1,