rs199422150

Orientation

minus

Stabilized

minus

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

Make rs199422150(G;T)

Make rs199422150(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197128485

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422150
dbSNP (classic)	rs199422150
ClinGen	rs199422150
ebi	rs199422150
HLI	rs199422150
Exac	rs199422150
Gnomad	rs199422150
Varsome	rs199422150
LitVar	rs199422150
Map	rs199422150
PheGenI	rs199422150
Biobank	rs199422150
1000 genomes	rs199422150
hgdp	rs199422150
ensembl	rs199422150
geneview	rs199422150
scholar	rs199422150
google	rs199422150
pharmgkb	rs199422150
gwascentral	rs199422150
openSNP	rs199422150
23andMe	rs199422150
SNPshot	rs199422150
SNPdbe	rs199422150
MSV3d	rs199422150
GWAS Ctlg	rs199422150

Max Magnitude

0

ClinVar
Risk	rs199422150(A;A) rs199422150(T;T)
Alt	rs199422150(A;A) rs199422150(T;T)
Reference	Rs199422150(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.197097615C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020758.1,