rs199422182

Orientation

minus

Stabilized

minus

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

Make rs199422182(-;-)

Make rs199422182(-;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197096141

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422182
dbSNP (classic)	rs199422182
ClinGen	rs199422182
ebi	rs199422182
HLI	rs199422182
Exac	rs199422182
Gnomad	rs199422182
Varsome	rs199422182
LitVar	rs199422182
Map	rs199422182
PheGenI	rs199422182
Biobank	rs199422182
1000 genomes	rs199422182
hgdp	rs199422182
ensembl	rs199422182
geneview	rs199422182
scholar	rs199422182
google	rs199422182
pharmgkb	rs199422182
gwascentral	rs199422182
openSNP	rs199422182
23andMe	rs199422182
SNPshot	rs199422182
SNPdbe	rs199422182
MSV3d	rs199422182
GWAS Ctlg	rs199422182

Max Magnitude

0

ClinVar
Risk	rs199422182(-;-)
Alt	rs199422182(-;-)
Reference	Rs199422182(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197065271delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020809.1,