rs587783285

Orientation

minus

Stabilized

minus

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

Make rs587783285(A;A)

Make rs587783285(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197096082

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783285
dbSNP (classic)	rs587783285
ClinGen	rs587783285
ebi	rs587783285
HLI	rs587783285
Exac	rs587783285
Gnomad	rs587783285
Varsome	rs587783285
LitVar	rs587783285
Map	rs587783285
PheGenI	rs587783285
Biobank	rs587783285
1000 genomes	rs587783285
hgdp	rs587783285
ensembl	rs587783285
geneview	rs587783285
scholar	rs587783285
google	rs587783285
pharmgkb	rs587783285
gwascentral	rs587783285
openSNP	rs587783285
23andMe	rs587783285
SNPshot	rs587783285
SNPdbe	rs587783285
MSV3d	rs587783285
GWAS Ctlg	rs587783285

Max Magnitude

0

ClinVar
Risk	rs587783285(A;A)
Alt	rs587783285(A;A)
Reference	Rs587783285(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.197065212C>T
CLNSRC
CLNACC	RCV000145222.1,