rs587783228

Orientation

minus

Stabilized

minus

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

Make rs587783228(-;-)

Make rs587783228(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197125160

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783228
dbSNP (classic)	rs587783228
ClinGen	rs587783228
ebi	rs587783228
HLI	rs587783228
Exac	rs587783228
Gnomad	rs587783228
Varsome	rs587783228
LitVar	rs587783228
Map	rs587783228
PheGenI	rs587783228
Biobank	rs587783228
1000 genomes	rs587783228
hgdp	rs587783228
ensembl	rs587783228
geneview	rs587783228
scholar	rs587783228
google	rs587783228
pharmgkb	rs587783228
gwascentral	rs587783228
openSNP	rs587783228
23andMe	rs587783228
SNPshot	rs587783228
SNPdbe	rs587783228
MSV3d	rs587783228
GWAS Ctlg	rs587783228

Max Magnitude

0

ClinVar
Risk	rs587783228(-;-)
Alt	rs587783228(-;-)
Reference	Rs587783228(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.197094290delC
CLNSRC
CLNACC	RCV000145105.1,