rs199422152

Orientation

minus

Stabilized

minus

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

Make rs199422152(A;A)

Make rs199422152(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197125161

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422152
dbSNP (classic)	rs199422152
ClinGen	rs199422152
ebi	rs199422152
HLI	rs199422152
Exac	rs199422152
Gnomad	rs199422152
Varsome	rs199422152
LitVar	rs199422152
Map	rs199422152
PheGenI	rs199422152
Biobank	rs199422152
1000 genomes	rs199422152
hgdp	rs199422152
ensembl	rs199422152
geneview	rs199422152
scholar	rs199422152
google	rs199422152
pharmgkb	rs199422152
gwascentral	rs199422152
openSNP	rs199422152
23andMe	rs199422152
SNPshot	rs199422152
SNPdbe	rs199422152
MSV3d	rs199422152
GWAS Ctlg	rs199422152

Max Magnitude

0

ClinVar
Risk	rs199422152(A;A)
Alt	rs199422152(A;A)
Reference	Rs199422152(G;G)
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.197094291C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020760.1,