rs199422153

Orientation

minus

Stabilized

minus

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

Make rs199422153(C;T)

Make rs199422153(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197125073

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422153
dbSNP (classic)	rs199422153
ClinGen	rs199422153
ebi	rs199422153
HLI	rs199422153
Exac	rs199422153
Gnomad	rs199422153
Varsome	rs199422153
LitVar	rs199422153
Map	rs199422153
PheGenI	rs199422153
Biobank	rs199422153
1000 genomes	rs199422153
hgdp	rs199422153
ensembl	rs199422153
geneview	rs199422153
scholar	rs199422153
google	rs199422153
pharmgkb	rs199422153
gwascentral	rs199422153
openSNP	rs199422153
23andMe	rs199422153
SNPshot	rs199422153
SNPdbe	rs199422153
MSV3d	rs199422153
GWAS Ctlg	rs199422153

Max Magnitude

0

ClinVar
Risk	rs199422153(T;T)
Alt	rs199422153(T;T)
Reference	Rs199422153(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.197094203G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020761.1,