rs189678019

Orientation

plus

Stabilized

plus

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

Make rs189678019(A;G)

Make rs189678019(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101490

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs189678019
dbSNP (classic)	rs189678019
ClinGen	rs189678019
ebi	rs189678019
HLI	rs189678019
Exac	rs189678019
Gnomad	rs189678019
Varsome	rs189678019
LitVar	rs189678019
Map	rs189678019
PheGenI	rs189678019
Biobank	rs189678019
1000 genomes	rs189678019
hgdp	rs189678019
ensembl	rs189678019
geneview	rs189678019
scholar	rs189678019
google	rs189678019
pharmgkb	rs189678019
gwascentral	rs189678019
openSNP	rs189678019
23andMe	rs189678019
SNPshot	rs189678019
SNPdbe	rs189678019
MSV3d	rs189678019
GWAS Ctlg	rs189678019

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs189678019(C;C) rs189678019(G;G)
Alt	rs189678019(C;C) rs189678019(G;G)
Reference	Rs189678019(A;A)
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.197070620A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005246.3,