rs145489194

Orientation

plus

Stabilized

plus

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

Make rs145489194(C;C)

Make rs145489194(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197133380

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs145489194
dbSNP (classic)	rs145489194
ClinGen	rs145489194
ebi	rs145489194
HLI	rs145489194
Exac	rs145489194
Gnomad	rs145489194
Varsome	rs145489194
LitVar	rs145489194
Map	rs145489194
PheGenI	rs145489194
Biobank	rs145489194
1000 genomes	rs145489194
hgdp	rs145489194
ensembl	rs145489194
geneview	rs145489194
scholar	rs145489194
google	rs145489194
pharmgkb	rs145489194
gwascentral	rs145489194
openSNP	rs145489194
23andMe	rs145489194
SNPshot	rs145489194
SNPdbe	rs145489194
MSV3d	rs145489194
GWAS Ctlg	rs145489194

Max Magnitude

0

ClinVar
Risk	rs145489194(A;A) rs145489194(C;C)
Alt	rs145489194(A;A) rs145489194(C;C)
Reference	Rs145489194(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	0
HGVS	NC_000001.10:g.197102510G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005253.4,