rs199422157

Orientation

minus

Stabilized

minus

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

Make rs199422157(C;G)

Make rs199422157(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197122459

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422157
dbSNP (classic)	rs199422157
ClinGen	rs199422157
ebi	rs199422157
HLI	rs199422157
Exac	rs199422157
Gnomad	rs199422157
Varsome	rs199422157
LitVar	rs199422157
Map	rs199422157
PheGenI	rs199422157
Biobank	rs199422157
1000 genomes	rs199422157
hgdp	rs199422157
ensembl	rs199422157
geneview	rs199422157
scholar	rs199422157
google	rs199422157
pharmgkb	rs199422157
gwascentral	rs199422157
openSNP	rs199422157
23andMe	rs199422157
SNPshot	rs199422157
SNPdbe	rs199422157
MSV3d	rs199422157
GWAS Ctlg	rs199422157

Max Magnitude

0

ClinVar
Risk	rs199422157(G;G)
Alt	rs199422157(G;G)
Reference	Rs199422157(C;C)
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.197091589G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020767.1,