rs199422148

Orientation

minus

Stabilized

minus

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

Make rs199422148(C;T)

Make rs199422148(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197139803

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422148
dbSNP (classic)	rs199422148
ClinGen	rs199422148
ebi	rs199422148
HLI	rs199422148
Exac	rs199422148
Gnomad	rs199422148
Varsome	rs199422148
LitVar	rs199422148
Map	rs199422148
PheGenI	rs199422148
Biobank	rs199422148
1000 genomes	rs199422148
hgdp	rs199422148
ensembl	rs199422148
geneview	rs199422148
scholar	rs199422148
google	rs199422148
pharmgkb	rs199422148
gwascentral	rs199422148
openSNP	rs199422148
23andMe	rs199422148
SNPshot	rs199422148
SNPdbe	rs199422148
MSV3d	rs199422148
GWAS Ctlg	rs199422148

Max Magnitude

0

ClinVar
Risk	rs199422148(T;T)
Alt	rs199422148(T;T)
Reference	Rs199422148(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.197108933G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020752.1,