rs199422138

Orientation

minus

Stabilized

minus

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

Make rs199422138(-;-)

Make rs199422138(-;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197143073

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422138
dbSNP (classic)	rs199422138
ClinGen	rs199422138
ebi	rs199422138
HLI	rs199422138
Exac	rs199422138
Gnomad	rs199422138
Varsome	rs199422138
LitVar	rs199422138
Map	rs199422138
PheGenI	rs199422138
Biobank	rs199422138
1000 genomes	rs199422138
hgdp	rs199422138
ensembl	rs199422138
geneview	rs199422138
scholar	rs199422138
google	rs199422138
pharmgkb	rs199422138
gwascentral	rs199422138
openSNP	rs199422138
23andMe	rs199422138
SNPshot	rs199422138
SNPdbe	rs199422138
MSV3d	rs199422138
GWAS Ctlg	rs199422138

Max Magnitude

0

ClinVar
Risk	rs199422138(-;-)
Alt	rs199422138(-;-)
Reference	Rs199422138(T;T)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197112203delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020741.1, RCV000485588.1,