rs199422154

Orientation

minus

Stabilized

minus

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

Make rs199422154(A;A)

Make rs199422154(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197125046

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422154
dbSNP (classic)	rs199422154
ClinGen	rs199422154
ebi	rs199422154
HLI	rs199422154
Exac	rs199422154
Gnomad	rs199422154
Varsome	rs199422154
LitVar	rs199422154
Map	rs199422154
PheGenI	rs199422154
Biobank	rs199422154
1000 genomes	rs199422154
hgdp	rs199422154
ensembl	rs199422154
geneview	rs199422154
scholar	rs199422154
google	rs199422154
pharmgkb	rs199422154
gwascentral	rs199422154
openSNP	rs199422154
23andMe	rs199422154
SNPshot	rs199422154
SNPdbe	rs199422154
MSV3d	rs199422154
GWAS Ctlg	rs199422154

Max Magnitude

0

ClinVar
Risk	rs199422154(A;A)
Alt	rs199422154(A;A)
Reference	Rs199422154(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.197094176C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020762.1,