rs137852994

Orientation

minus

Stabilized

minus

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

Make rs137852994(C;T)

Make rs137852994(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197093168

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs137852994
dbSNP (classic)	rs137852994
ClinGen	rs137852994
ebi	rs137852994
HLI	rs137852994
Exac	rs137852994
Gnomad	rs137852994
Varsome	rs137852994
LitVar	rs137852994
Map	rs137852994
PheGenI	rs137852994
Biobank	rs137852994
1000 genomes	rs137852994
hgdp	rs137852994
ensembl	rs137852994
geneview	rs137852994
scholar	rs137852994
google	rs137852994
pharmgkb	rs137852994
gwascentral	rs137852994
openSNP	rs137852994
23andMe	rs137852994
SNPshot	rs137852994
SNPdbe	rs137852994
MSV3d	rs137852994
GWAS Ctlg	rs137852994

GMAF

0.001837

Max Magnitude

0

OMIM	605481
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852994(T;T)
Alt	rs137852994(T;T)
Reference	Rs137852994(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197062298G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005248.4, RCV000214564.1,