rs199422164

Orientation

minus

Stabilized

minus

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

Make rs199422164(-;-)

Make rs199422164(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197104670

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422164
dbSNP (classic)	rs199422164
ClinGen	rs199422164
ebi	rs199422164
HLI	rs199422164
Exac	rs199422164
Gnomad	rs199422164
Varsome	rs199422164
LitVar	rs199422164
Map	rs199422164
PheGenI	rs199422164
Biobank	rs199422164
1000 genomes	rs199422164
hgdp	rs199422164
ensembl	rs199422164
geneview	rs199422164
scholar	rs199422164
google	rs199422164
pharmgkb	rs199422164
gwascentral	rs199422164
openSNP	rs199422164
23andMe	rs199422164
SNPshot	rs199422164
SNPdbe	rs199422164
MSV3d	rs199422164
GWAS Ctlg	rs199422164

Max Magnitude

0

ClinVar
Risk	rs199422164(-;-)
Alt	rs199422164(-;-)
Reference	Rs199422164(A;A)
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.197073800delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020777.1,