rs199422160

Orientation

minus

Stabilized

minus

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

Make rs199422160(A;A)

Make rs199422160(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197122158

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422160
dbSNP (classic)	rs199422160
ClinGen	rs199422160
ebi	rs199422160
HLI	rs199422160
Exac	rs199422160
Gnomad	rs199422160
Varsome	rs199422160
LitVar	rs199422160
Map	rs199422160
PheGenI	rs199422160
Biobank	rs199422160
1000 genomes	rs199422160
hgdp	rs199422160
ensembl	rs199422160
geneview	rs199422160
scholar	rs199422160
google	rs199422160
pharmgkb	rs199422160
gwascentral	rs199422160
openSNP	rs199422160
23andMe	rs199422160
SNPshot	rs199422160
SNPdbe	rs199422160
MSV3d	rs199422160
GWAS Ctlg	rs199422160

Max Magnitude

0

ClinVar
Risk	rs199422160(A;A)
Alt	rs199422160(A;A)
Reference	Rs199422160(G;G)
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.197091288C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020771.1,