rs587783263

Orientation

minus

Stabilized

minus

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

Make rs587783263(-;ACTG)

Make rs587783263(ACTG;ACTG)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197102126

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783263
dbSNP (classic)	rs587783263
ClinGen	rs587783263
ebi	rs587783263
HLI	rs587783263
Exac	rs587783263
Gnomad	rs587783263
Varsome	rs587783263
LitVar	rs587783263
Map	rs587783263
PheGenI	rs587783263
Biobank	rs587783263
1000 genomes	rs587783263
hgdp	rs587783263
ensembl	rs587783263
geneview	rs587783263
scholar	rs587783263
google	rs587783263
pharmgkb	rs587783263
gwascentral	rs587783263
openSNP	rs587783263
23andMe	rs587783263
SNPshot	rs587783263
SNPdbe	rs587783263
MSV3d	rs587783263
GWAS Ctlg	rs587783263

Merged from

Rs587783264

Max Magnitude

0

ClinVar
Risk	rs587783263(ACTG;ACTG)
Alt	rs587783263(ACTG;ACTG)
Reference	Rs587783263(-;-)
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.197071253_197071256dupCAGT
CLNSRC
CLNACC	RCV000145177.4,