rs199422171

Orientation

minus

Stabilized

minus

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

Make rs199422171(-;-)

Make rs199422171(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197102519

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422171
dbSNP (classic)	rs199422171
ClinGen	rs199422171
ebi	rs199422171
HLI	rs199422171
Exac	rs199422171
Gnomad	rs199422171
Varsome	rs199422171
LitVar	rs199422171
Map	rs199422171
PheGenI	rs199422171
Biobank	rs199422171
1000 genomes	rs199422171
hgdp	rs199422171
ensembl	rs199422171
geneview	rs199422171
scholar	rs199422171
google	rs199422171
pharmgkb	rs199422171
gwascentral	rs199422171
openSNP	rs199422171
23andMe	rs199422171
SNPshot	rs199422171
SNPdbe	rs199422171
MSV3d	rs199422171
GWAS Ctlg	rs199422171

Max Magnitude

0

ClinVar
Risk	rs199422171(-;-)
Alt	rs199422171(-;-)
Reference	Rs199422171(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.197071649delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020787.1,