rs121434305

Orientation

plus

Stabilized

plus

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

Make rs121434305(C;G)

Make rs121434305(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6409330

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs121434305
dbSNP (classic)	rs121434305
ClinGen	rs121434305
ebi	rs121434305
HLI	rs121434305
Exac	rs121434305
Gnomad	rs121434305
Varsome	rs121434305
LitVar	rs121434305
Map	rs121434305
PheGenI	rs121434305
Biobank	rs121434305
1000 genomes	rs121434305
hgdp	rs121434305
ensembl	rs121434305
geneview	rs121434305
scholar	rs121434305
google	rs121434305
pharmgkb	rs121434305
gwascentral	rs121434305
openSNP	rs121434305
23andMe	rs121434305
SNPshot	rs121434305
SNPdbe	rs121434305
MSV3d	rs121434305
GWAS Ctlg	rs121434305

Max Magnitude

0

OMIM	607117
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434305(G;G)
Alt	rs121434305(G;G)
Reference	Rs121434305(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.6266851C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003618.2,