rs199422143

Orientation

minus

Stabilized

minus

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

Make rs199422143(-;-)

Make rs199422143(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197142662

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422143
dbSNP (classic)	rs199422143
ClinGen	rs199422143
ebi	rs199422143
HLI	rs199422143
Exac	rs199422143
Gnomad	rs199422143
Varsome	rs199422143
LitVar	rs199422143
Map	rs199422143
PheGenI	rs199422143
Biobank	rs199422143
1000 genomes	rs199422143
hgdp	rs199422143
ensembl	rs199422143
geneview	rs199422143
scholar	rs199422143
google	rs199422143
pharmgkb	rs199422143
gwascentral	rs199422143
openSNP	rs199422143
23andMe	rs199422143
SNPshot	rs199422143
SNPdbe	rs199422143
MSV3d	rs199422143
GWAS Ctlg	rs199422143

Max Magnitude

0

ClinVar
Risk	rs199422143(-;-)
Alt	rs199422143(-;-)
Reference	Rs199422143(A;A)
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.197111792delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020746.1,