rs587783289

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(I;I)	0	common genotype

Make rs587783289(-;-)

Make rs587783289(-;AG)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197092041

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783289
dbSNP (classic)	rs587783289
ClinGen	rs587783289
ebi	rs587783289
HLI	rs587783289
Exac	rs587783289
Gnomad	rs587783289
Varsome	rs587783289
LitVar	rs587783289
Map	rs587783289
PheGenI	rs587783289
Biobank	rs587783289
1000 genomes	rs587783289
hgdp	rs587783289
ensembl	rs587783289
geneview	rs587783289
scholar	rs587783289
google	rs587783289
pharmgkb	rs587783289
gwascentral	rs587783289
openSNP	rs587783289
23andMe	rs587783289
SNPshot	rs587783289
SNPdbe	rs587783289
MSV3d	rs587783289
GWAS Ctlg	rs587783289

Max Magnitude

0

ClinVar
Risk	rs587783289(-;-)
Alt	rs587783289(-;-)
Reference	Rs587783289(AG;AG)
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.197061171_197061172delCT
CLNSRC
CLNACC	RCV000145229.1,