rs199422133

Orientation

minus

Stabilized

minus

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

Make rs199422133(-;-)

Make rs199422133(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197143958

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422133
dbSNP (classic)	rs199422133
ClinGen	rs199422133
ebi	rs199422133
HLI	rs199422133
Exac	rs199422133
Gnomad	rs199422133
Varsome	rs199422133
LitVar	rs199422133
Map	rs199422133
PheGenI	rs199422133
Biobank	rs199422133
1000 genomes	rs199422133
hgdp	rs199422133
ensembl	rs199422133
geneview	rs199422133
scholar	rs199422133
google	rs199422133
pharmgkb	rs199422133
gwascentral	rs199422133
openSNP	rs199422133
23andMe	rs199422133
SNPshot	rs199422133
SNPdbe	rs199422133
MSV3d	rs199422133
GWAS Ctlg	rs199422133

Max Magnitude

0

ClinVar
Risk	rs199422133(-;-)
Alt	rs199422133(-;-)
Reference	Rs199422133(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.197113088delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020775.1,