rs199422124

Orientation

plus

Stabilized

plus

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

Make rs199422124(C;G)

Make rs199422124(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6409336

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs199422124
dbSNP (classic)	rs199422124
ClinGen	rs199422124
ebi	rs199422124
HLI	rs199422124
Exac	rs199422124
Gnomad	rs199422124
Varsome	rs199422124
LitVar	rs199422124
Map	rs199422124
PheGenI	rs199422124
Biobank	rs199422124
1000 genomes	rs199422124
hgdp	rs199422124
ensembl	rs199422124
geneview	rs199422124
scholar	rs199422124
google	rs199422124
pharmgkb	rs199422124
gwascentral	rs199422124
openSNP	rs199422124
23andMe	rs199422124
SNPshot	rs199422124
SNPdbe	rs199422124
MSV3d	rs199422124
GWAS Ctlg	rs199422124

Max Magnitude

0

ClinVar
Risk	rs199422124(G;G)
Alt	rs199422124(G;G)
Reference	Rs199422124(C;C)
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.6266857C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020902.1,