rs199422199

Orientation

minus

Stabilized

minus

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

Make rs199422199(A;T)

Make rs199422199(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090073

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422199
dbSNP (classic)	rs199422199
ClinGen	rs199422199
ebi	rs199422199
HLI	rs199422199
Exac	rs199422199
Gnomad	rs199422199
Varsome	rs199422199
LitVar	rs199422199
Map	rs199422199
PheGenI	rs199422199
Biobank	rs199422199
1000 genomes	rs199422199
hgdp	rs199422199
ensembl	rs199422199
geneview	rs199422199
scholar	rs199422199
google	rs199422199
pharmgkb	rs199422199
gwascentral	rs199422199
openSNP	rs199422199
23andMe	rs199422199
SNPshot	rs199422199
SNPdbe	rs199422199
MSV3d	rs199422199
GWAS Ctlg	rs199422199

Max Magnitude

0

ClinVar
Risk	rs199422199(T;T)
Alt	rs199422199(T;T)
Reference	Rs199422199(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.197059203T>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020830.1,