rs199422158

Orientation

minus

Stabilized

minus

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

Make rs199422158(-;-)

Make rs199422158(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197122237

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422158
dbSNP (classic)	rs199422158
ClinGen	rs199422158
ebi	rs199422158
HLI	rs199422158
Exac	rs199422158
Gnomad	rs199422158
Varsome	rs199422158
LitVar	rs199422158
Map	rs199422158
PheGenI	rs199422158
Biobank	rs199422158
1000 genomes	rs199422158
hgdp	rs199422158
ensembl	rs199422158
geneview	rs199422158
scholar	rs199422158
google	rs199422158
pharmgkb	rs199422158
gwascentral	rs199422158
openSNP	rs199422158
23andMe	rs199422158
SNPshot	rs199422158
SNPdbe	rs199422158
MSV3d	rs199422158
GWAS Ctlg	rs199422158

Max Magnitude

0

ClinVar
Risk	rs199422158(-;-)
Alt	rs199422158(-;-)
Reference	Rs199422158(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.197091367delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020769.1,