rs587783247

Orientation

minus

Stabilized

minus

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

Make rs587783247(A;A)

Make rs587783247(A;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197104055

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783247
dbSNP (classic)	rs587783247
ClinGen	rs587783247
ebi	rs587783247
HLI	rs587783247
Exac	rs587783247
Gnomad	rs587783247
Varsome	rs587783247
LitVar	rs587783247
Map	rs587783247
PheGenI	rs587783247
Biobank	rs587783247
1000 genomes	rs587783247
hgdp	rs587783247
ensembl	rs587783247
geneview	rs587783247
scholar	rs587783247
google	rs587783247
pharmgkb	rs587783247
gwascentral	rs587783247
openSNP	rs587783247
23andMe	rs587783247
SNPshot	rs587783247
SNPdbe	rs587783247
MSV3d	rs587783247
GWAS Ctlg	rs587783247

Max Magnitude

0

ClinVar
Risk	rs587783247(A;A)
Alt	rs587783247(A;A)
Reference	Rs587783247(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.197073185A>T
CLNSRC
CLNACC	RCV000145139.1,