rs137852996

Orientation

minus

Stabilized

minus

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

Make rs137852996(C;T)

Make rs137852996(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197144049

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs137852996
dbSNP (classic)	rs137852996
ClinGen	rs137852996
ebi	rs137852996
HLI	rs137852996
Exac	rs137852996
Gnomad	rs137852996
Varsome	rs137852996
LitVar	rs137852996
Map	rs137852996
PheGenI	rs137852996
Biobank	rs137852996
1000 genomes	rs137852996
hgdp	rs137852996
ensembl	rs137852996
geneview	rs137852996
scholar	rs137852996
google	rs137852996
pharmgkb	rs137852996
gwascentral	rs137852996
openSNP	rs137852996
23andMe	rs137852996
SNPshot	rs137852996
SNPdbe	rs137852996
MSV3d	rs137852996
GWAS Ctlg	rs137852996

Max Magnitude

0

OMIM	605481
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852996(T;T)
Alt	rs137852996(T;T)
Reference	Rs137852996(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.197113179G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005250.3,