rs199422162

Orientation

minus

Stabilized

minus

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

Make rs199422162(A;A)

Make rs199422162(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197105177

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422162
dbSNP (classic)	rs199422162
ClinGen	rs199422162
ebi	rs199422162
HLI	rs199422162
Exac	rs199422162
Gnomad	rs199422162
Varsome	rs199422162
LitVar	rs199422162
Map	rs199422162
PheGenI	rs199422162
Biobank	rs199422162
1000 genomes	rs199422162
hgdp	rs199422162
ensembl	rs199422162
geneview	rs199422162
scholar	rs199422162
google	rs199422162
pharmgkb	rs199422162
gwascentral	rs199422162
openSNP	rs199422162
23andMe	rs199422162
SNPshot	rs199422162
SNPdbe	rs199422162
MSV3d	rs199422162
GWAS Ctlg	rs199422162

Max Magnitude

0

ClinVar
Risk	rs199422162(A;A)
Alt	rs199422162(A;A)
Reference	Rs199422162(G;G)
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.197074307C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020774.1,