rs143931757

Orientation

plus

Stabilized

plus

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

Make rs143931757(A;G)

Make rs143931757(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090994

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs143931757
dbSNP (classic)	rs143931757
ClinGen	rs143931757
ebi	rs143931757
HLI	rs143931757
Exac	rs143931757
Gnomad	rs143931757
Varsome	rs143931757
LitVar	rs143931757
Map	rs143931757
PheGenI	rs143931757
Biobank	rs143931757
1000 genomes	rs143931757
hgdp	rs143931757
ensembl	rs143931757
geneview	rs143931757
scholar	rs143931757
google	rs143931757
pharmgkb	rs143931757
gwascentral	rs143931757
openSNP	rs143931757
23andMe	rs143931757
SNPshot	rs143931757
SNPdbe	rs143931757
MSV3d	rs143931757
GWAS Ctlg	rs143931757

Max Magnitude

0

ClinVar
Risk	rs143931757(C;C) rs143931757(G;G)
Alt	rs143931757(C;C) rs143931757(G;G)
Reference	Rs143931757(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.197060124A>C; NC_000001.10:g.197060124A>G
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020816.1, RCV000145236.1,