rs199422180

Orientation

minus

Stabilized

minus

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

Make rs199422180(-;-)

Make rs199422180(-;GA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197100742

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422180
dbSNP (classic)	rs199422180
ClinGen	rs199422180
ebi	rs199422180
HLI	rs199422180
Exac	rs199422180
Gnomad	rs199422180
Varsome	rs199422180
LitVar	rs199422180
Map	rs199422180
PheGenI	rs199422180
Biobank	rs199422180
1000 genomes	rs199422180
hgdp	rs199422180
ensembl	rs199422180
geneview	rs199422180
scholar	rs199422180
google	rs199422180
pharmgkb	rs199422180
gwascentral	rs199422180
openSNP	rs199422180
23andMe	rs199422180
SNPshot	rs199422180
SNPdbe	rs199422180
MSV3d	rs199422180
GWAS Ctlg	rs199422180

Max Magnitude

0

ClinVar
Risk	rs199422180(-;-)
Alt	rs199422180(-;-)
Reference	Rs199422180(GA;GA)
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.197069872_197069873delTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020807.1,