rs199422166

Orientation

minus

Stabilized

minus

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

Make rs199422166(-;-)

Make rs199422166(-;TA)

Make rs199422166(TA;TA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197104395

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422166
dbSNP (classic)	rs199422166
ClinGen	rs199422166
ebi	rs199422166
HLI	rs199422166
Exac	rs199422166
Gnomad	rs199422166
Varsome	rs199422166
LitVar	rs199422166
Map	rs199422166
PheGenI	rs199422166
Biobank	rs199422166
1000 genomes	rs199422166
hgdp	rs199422166
ensembl	rs199422166
geneview	rs199422166
scholar	rs199422166
google	rs199422166
pharmgkb	rs199422166
gwascentral	rs199422166
openSNP	rs199422166
23andMe	rs199422166
SNPshot	rs199422166
SNPdbe	rs199422166
MSV3d	rs199422166
GWAS Ctlg	rs199422166

Max Magnitude

0

ClinVar
Risk	rs199422166(-;-)
Alt	rs199422166(-;-)
Reference	Rs199422166(AT;AT)
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.197073525_197073526delTA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020779.1,