rs199422134

Orientation

minus

Stabilized

minus

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

Make rs199422134(A;A)

Make rs199422134(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197143675

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422134
dbSNP (classic)	rs199422134
ClinGen	rs199422134
ebi	rs199422134
HLI	rs199422134
Exac	rs199422134
Gnomad	rs199422134
Varsome	rs199422134
LitVar	rs199422134
Map	rs199422134
PheGenI	rs199422134
Biobank	rs199422134
1000 genomes	rs199422134
hgdp	rs199422134
ensembl	rs199422134
geneview	rs199422134
scholar	rs199422134
google	rs199422134
pharmgkb	rs199422134
gwascentral	rs199422134
openSNP	rs199422134
23andMe	rs199422134
SNPshot	rs199422134
SNPdbe	rs199422134
MSV3d	rs199422134
GWAS Ctlg	rs199422134

Max Magnitude

0

ClinVar
Risk	rs199422134(A;A) rs199422134(T;T)
Alt	rs199422134(A;A) rs199422134(T;T)
Reference	Rs199422134(C;C)
Significance	Other
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197112805G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020782.2,