rs199422176

Orientation

minus

Stabilized

minus

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

Make rs199422176(-;-)

Make rs199422176(-;AA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101120

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422176
dbSNP (classic)	rs199422176
ClinGen	rs199422176
ebi	rs199422176
HLI	rs199422176
Exac	rs199422176
Gnomad	rs199422176
Varsome	rs199422176
LitVar	rs199422176
Map	rs199422176
PheGenI	rs199422176
Biobank	rs199422176
1000 genomes	rs199422176
hgdp	rs199422176
ensembl	rs199422176
geneview	rs199422176
scholar	rs199422176
google	rs199422176
pharmgkb	rs199422176
gwascentral	rs199422176
openSNP	rs199422176
23andMe	rs199422176
SNPshot	rs199422176
SNPdbe	rs199422176
MSV3d	rs199422176
GWAS Ctlg	rs199422176

Max Magnitude

0

ClinVar
Risk	rs199422176(-;-)
Alt	rs199422176(-;-)
Reference	Rs199422176(AA;AA)
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.197070250_197070251delTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020802.1,