rs199422159

Orientation

minus

Stabilized

minus

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

Make rs199422159(C;G)

Make rs199422159(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197122190

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422159
dbSNP (classic)	rs199422159
ClinGen	rs199422159
ebi	rs199422159
HLI	rs199422159
Exac	rs199422159
Gnomad	rs199422159
Varsome	rs199422159
LitVar	rs199422159
Map	rs199422159
PheGenI	rs199422159
Biobank	rs199422159
1000 genomes	rs199422159
hgdp	rs199422159
ensembl	rs199422159
geneview	rs199422159
scholar	rs199422159
google	rs199422159
pharmgkb	rs199422159
gwascentral	rs199422159
openSNP	rs199422159
23andMe	rs199422159
SNPshot	rs199422159
SNPdbe	rs199422159
MSV3d	rs199422159
GWAS Ctlg	rs199422159

Max Magnitude

0

ClinVar
Risk	rs199422159(G;G)
Alt	rs199422159(G;G)
Reference	Rs199422159(C;C)
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.197091320G>C
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020770.2,