rs587783264

Merged into

rs587783263

Orientation

minus

Stabilized

minus

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

Make rs587783264(-;ACTG)

Make rs587783264(ACTG;ACTG)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197102122

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783264
dbSNP (classic)	rs587783264
ClinGen	rs587783264
ebi	rs587783264
HLI	rs587783264
Exac	rs587783264
Gnomad	rs587783264
Varsome	rs587783264
LitVar	rs587783264
Map	rs587783264
PheGenI	rs587783264
Biobank	rs587783264
1000 genomes	rs587783264
hgdp	rs587783264
ensembl	rs587783264
geneview	rs587783264
scholar	rs587783264
google	rs587783264
pharmgkb	rs587783264
gwascentral	rs587783264
openSNP	rs587783264
23andMe	rs587783264
SNPshot	rs587783264
SNPdbe	rs587783264
MSV3d	rs587783264
GWAS Ctlg	rs587783264

Status

Merged into rs587783263

Max Magnitude

0

ClinVar
Risk	rs587783264(ACTG;ACTG)
Alt	rs587783264(ACTG;ACTG)
Reference	Rs587783264(;)
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	RCV000145177.3,