rs199422151

Orientation

minus

Stabilized

minus

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

Make rs199422151(C;T)

Make rs199422151(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197125190

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422151
dbSNP (classic)	rs199422151
ClinGen	rs199422151
ebi	rs199422151
HLI	rs199422151
Exac	rs199422151
Gnomad	rs199422151
Varsome	rs199422151
LitVar	rs199422151
Map	rs199422151
PheGenI	rs199422151
Biobank	rs199422151
1000 genomes	rs199422151
hgdp	rs199422151
ensembl	rs199422151
geneview	rs199422151
scholar	rs199422151
google	rs199422151
pharmgkb	rs199422151
gwascentral	rs199422151
openSNP	rs199422151
23andMe	rs199422151
SNPshot	rs199422151
SNPdbe	rs199422151
MSV3d	rs199422151
GWAS Ctlg	rs199422151

Max Magnitude

0

ClinVar
Risk	rs199422151(A;A) rs199422151(T;T)
Alt	rs199422151(A;A) rs199422151(T;T)
Reference	Rs199422151(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.197094320G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020759.1,