rs137852995

Orientation

minus

Stabilized

minus

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

Make rs137852995(A;A)

Make rs137852995(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197117876

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs137852995
dbSNP (classic)	rs137852995
ClinGen	rs137852995
ebi	rs137852995
HLI	rs137852995
Exac	rs137852995
Gnomad	rs137852995
Varsome	rs137852995
LitVar	rs137852995
Map	rs137852995
PheGenI	rs137852995
Biobank	rs137852995
1000 genomes	rs137852995
hgdp	rs137852995
ensembl	rs137852995
geneview	rs137852995
scholar	rs137852995
google	rs137852995
pharmgkb	rs137852995
gwascentral	rs137852995
openSNP	rs137852995
23andMe	rs137852995
SNPshot	rs137852995
SNPdbe	rs137852995
MSV3d	rs137852995
GWAS Ctlg	rs137852995

Max Magnitude

0

OMIM	605481
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852995(A;A)
Alt	rs137852995(A;A)
Reference	Rs137852995(G;G)
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.197087006C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005249.3,