rs199422146

Orientation

minus

Stabilized

minus

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

Make rs199422146(-;-)

Make rs199422146(-;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142524

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422146
dbSNP (classic)	rs199422146
ClinGen	rs199422146
ebi	rs199422146
HLI	rs199422146
Exac	rs199422146
Gnomad	rs199422146
Varsome	rs199422146
LitVar	rs199422146
Map	rs199422146
PheGenI	rs199422146
Biobank	rs199422146
1000 genomes	rs199422146
hgdp	rs199422146
ensembl	rs199422146
geneview	rs199422146
scholar	rs199422146
google	rs199422146
pharmgkb	rs199422146
gwascentral	rs199422146
openSNP	rs199422146
23andMe	rs199422146
SNPshot	rs199422146
SNPdbe	rs199422146
MSV3d	rs199422146
GWAS Ctlg	rs199422146

Max Magnitude

0

ClinVar
Risk	rs199422146(-;-)
Alt	rs199422146(-;-)
Reference	Rs199422146(AG;AG)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 Microcephaly not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 Microcephaly not provided
Reversed	1
HGVS	NC_000001.10:g.197111652_197111653delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020749.1, RCV000454234.1, RCV000483372.1,