rs587783288

Orientation

minus

Stabilized

minus

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

Make rs587783288(A;A)

Make rs587783288(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197093242

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783288
dbSNP (classic)	rs587783288
ClinGen	rs587783288
ebi	rs587783288
HLI	rs587783288
Exac	rs587783288
Gnomad	rs587783288
Varsome	rs587783288
LitVar	rs587783288
Map	rs587783288
PheGenI	rs587783288
Biobank	rs587783288
1000 genomes	rs587783288
hgdp	rs587783288
ensembl	rs587783288
geneview	rs587783288
scholar	rs587783288
google	rs587783288
pharmgkb	rs587783288
gwascentral	rs587783288
openSNP	rs587783288
23andMe	rs587783288
SNPshot	rs587783288
SNPdbe	rs587783288
MSV3d	rs587783288
GWAS Ctlg	rs587783288

Max Magnitude

0

ClinVar
Risk	rs587783288(A;A)
Alt	rs587783288(A;A)
Reference	Rs587783288(T;T)
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.197062372A>T
CLNSRC
CLNACC	RCV000145226.1,