rs199422197

Orientation

minus

Stabilized

minus

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

Make rs199422197(-;-)

Make rs199422197(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090271

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422197
dbSNP (classic)	rs199422197
ClinGen	rs199422197
ebi	rs199422197
HLI	rs199422197
Exac	rs199422197
Gnomad	rs199422197
Varsome	rs199422197
LitVar	rs199422197
Map	rs199422197
PheGenI	rs199422197
Biobank	rs199422197
1000 genomes	rs199422197
hgdp	rs199422197
ensembl	rs199422197
geneview	rs199422197
scholar	rs199422197
google	rs199422197
pharmgkb	rs199422197
gwascentral	rs199422197
openSNP	rs199422197
23andMe	rs199422197
SNPshot	rs199422197
SNPdbe	rs199422197
MSV3d	rs199422197
GWAS Ctlg	rs199422197

Max Magnitude

0

ClinVar
Risk	rs199422197(-;-)
Alt	rs199422197(-;-)
Reference	Rs199422197(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.197059401delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020827.1,