rs137852997

Orientation

minus

Stabilized

minus

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

Make rs137852997(G;G)

Make rs137852997(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197103062

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs137852997
dbSNP (classic)	rs137852997
ClinGen	rs137852997
ebi	rs137852997
HLI	rs137852997
Exac	rs137852997
Gnomad	rs137852997
Varsome	rs137852997
LitVar	rs137852997
Map	rs137852997
PheGenI	rs137852997
Biobank	rs137852997
1000 genomes	rs137852997
hgdp	rs137852997
ensembl	rs137852997
geneview	rs137852997
scholar	rs137852997
google	rs137852997
pharmgkb	rs137852997
gwascentral	rs137852997
openSNP	rs137852997
23andMe	rs137852997
SNPshot	rs137852997
SNPdbe	rs137852997
MSV3d	rs137852997
GWAS Ctlg	rs137852997

Max Magnitude

0

OMIM	605481
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852997(G;G)
Alt	rs137852997(G;G)
Reference	Rs137852997(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.197072192A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005251.4,