rs587783275

Orientation

minus

Stabilized

minus

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

Make rs587783275(C;T)

Make rs587783275(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197101234

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783275
dbSNP (classic)	rs587783275
ClinGen	rs587783275
ebi	rs587783275
HLI	rs587783275
Exac	rs587783275
Gnomad	rs587783275
Varsome	rs587783275
LitVar	rs587783275
Map	rs587783275
PheGenI	rs587783275
Biobank	rs587783275
1000 genomes	rs587783275
hgdp	rs587783275
ensembl	rs587783275
geneview	rs587783275
scholar	rs587783275
google	rs587783275
pharmgkb	rs587783275
gwascentral	rs587783275
openSNP	rs587783275
23andMe	rs587783275
SNPshot	rs587783275
SNPdbe	rs587783275
MSV3d	rs587783275
GWAS Ctlg	rs587783275

Max Magnitude

0

ClinVar
Risk	rs587783275(T;T)
Alt	rs587783275(T;T)
Reference	Rs587783275(C;C)
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.197070364G>A
CLNSRC
CLNACC	RCV000145206.1,