rs587783278

Orientation

minus

Stabilized

minus

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

Make rs587783278(-;-)

Make rs587783278(-;GAAA)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197101115

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783278
dbSNP (classic)	rs587783278
ClinGen	rs587783278
ebi	rs587783278
HLI	rs587783278
Exac	rs587783278
Gnomad	rs587783278
Varsome	rs587783278
LitVar	rs587783278
Map	rs587783278
PheGenI	rs587783278
Biobank	rs587783278
1000 genomes	rs587783278
hgdp	rs587783278
ensembl	rs587783278
geneview	rs587783278
scholar	rs587783278
google	rs587783278
pharmgkb	rs587783278
gwascentral	rs587783278
openSNP	rs587783278
23andMe	rs587783278
SNPshot	rs587783278
SNPdbe	rs587783278
MSV3d	rs587783278
GWAS Ctlg	rs587783278

Max Magnitude

0

ClinVar
Risk	rs587783278(-;-)
Alt	rs587783278(-;-)
Reference	Rs587783278(GAAA;GAAA)
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.197070245_197070248delTTTC
CLNSRC
CLNACC	RCV000145209.1,