rs587783215

Orientation

minus

Stabilized

minus

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

Make rs587783215(C;T)

Make rs587783215(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197143114

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783215
dbSNP (classic)	rs587783215
ClinGen	rs587783215
ebi	rs587783215
HLI	rs587783215
Exac	rs587783215
Gnomad	rs587783215
Varsome	rs587783215
LitVar	rs587783215
Map	rs587783215
PheGenI	rs587783215
Biobank	rs587783215
1000 genomes	rs587783215
hgdp	rs587783215
ensembl	rs587783215
geneview	rs587783215
scholar	rs587783215
google	rs587783215
pharmgkb	rs587783215
gwascentral	rs587783215
openSNP	rs587783215
23andMe	rs587783215
SNPshot	rs587783215
SNPdbe	rs587783215
MSV3d	rs587783215
GWAS Ctlg	rs587783215

Max Magnitude

0

ClinVar
Risk	rs587783215(A;A) rs587783215(T;T)
Alt	rs587783215(A;A) rs587783215(T;T)
Reference	Rs587783215(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197112244G>A
CLNSRC
CLNACC	RCV000145078.1, RCV000171162.1,