rs199422167

Orientation

minus

Stabilized

minus

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

Make rs199422167(-;-)

Make rs199422167(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197104102

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422167
dbSNP (classic)	rs199422167
ClinGen	rs199422167
ebi	rs199422167
HLI	rs199422167
Exac	rs199422167
Gnomad	rs199422167
Varsome	rs199422167
LitVar	rs199422167
Map	rs199422167
PheGenI	rs199422167
Biobank	rs199422167
1000 genomes	rs199422167
hgdp	rs199422167
ensembl	rs199422167
geneview	rs199422167
scholar	rs199422167
google	rs199422167
pharmgkb	rs199422167
gwascentral	rs199422167
openSNP	rs199422167
23andMe	rs199422167
SNPshot	rs199422167
SNPdbe	rs199422167
MSV3d	rs199422167
GWAS Ctlg	rs199422167

Max Magnitude

0

ClinVar
Risk	rs199422167(-;-)
Alt	rs199422167(-;-)
Reference	Rs199422167(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.197073232delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020781.1,