rs199422136

Orientation

minus

Stabilized

minus

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

Make rs199422136(-;-)

Make rs199422136(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197143250

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422136
dbSNP (classic)	rs199422136
ClinGen	rs199422136
ebi	rs199422136
HLI	rs199422136
Exac	rs199422136
Gnomad	rs199422136
Varsome	rs199422136
LitVar	rs199422136
Map	rs199422136
PheGenI	rs199422136
Biobank	rs199422136
1000 genomes	rs199422136
hgdp	rs199422136
ensembl	rs199422136
geneview	rs199422136
scholar	rs199422136
google	rs199422136
pharmgkb	rs199422136
gwascentral	rs199422136
openSNP	rs199422136
23andMe	rs199422136
SNPshot	rs199422136
SNPdbe	rs199422136
MSV3d	rs199422136
GWAS Ctlg	rs199422136

Max Magnitude

0

ClinVar
Risk	rs199422136(-;-)
Alt	rs199422136(-;-)
Reference	Rs199422136(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.197112380delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020738.1,