rs199422183

Orientation

minus

Stabilized

minus

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

Make rs199422183(-;CATT)

Make rs199422183(CATT;CATT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197093227

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422183
dbSNP (classic)	rs199422183
ClinGen	rs199422183
ebi	rs199422183
HLI	rs199422183
Exac	rs199422183
Gnomad	rs199422183
Varsome	rs199422183
LitVar	rs199422183
Map	rs199422183
PheGenI	rs199422183
Biobank	rs199422183
1000 genomes	rs199422183
hgdp	rs199422183
ensembl	rs199422183
geneview	rs199422183
scholar	rs199422183
google	rs199422183
pharmgkb	rs199422183
gwascentral	rs199422183
openSNP	rs199422183
23andMe	rs199422183
SNPshot	rs199422183
SNPdbe	rs199422183
MSV3d	rs199422183
GWAS Ctlg	rs199422183

Max Magnitude

0

ClinVar
Risk	rs199422183(CATT;CATT)
Alt	rs199422183(CATT;CATT)
Reference	Rs199422183(-;-)
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.197062357_197062358insAATG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020810.1,