rs199422149

Orientation

minus

Stabilized

minus

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

Make rs199422149(A;G)

Make rs199422149(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197128690

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422149
dbSNP (classic)	rs199422149
ClinGen	rs199422149
ebi	rs199422149
HLI	rs199422149
Exac	rs199422149
Gnomad	rs199422149
Varsome	rs199422149
LitVar	rs199422149
Map	rs199422149
PheGenI	rs199422149
Biobank	rs199422149
1000 genomes	rs199422149
hgdp	rs199422149
ensembl	rs199422149
geneview	rs199422149
scholar	rs199422149
google	rs199422149
pharmgkb	rs199422149
gwascentral	rs199422149
openSNP	rs199422149
23andMe	rs199422149
SNPshot	rs199422149
SNPdbe	rs199422149
MSV3d	rs199422149
GWAS Ctlg	rs199422149

Max Magnitude

0

ClinVar
Risk	rs199422149(G;G)
Alt	rs199422149(G;G)
Reference	Rs199422149(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.197097820T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020755.1,