rs199422194

Orientation

minus

Stabilized

minus

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

Make rs199422194(C;T)

Make rs199422194(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090328

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422194
dbSNP (classic)	rs199422194
ClinGen	rs199422194
ebi	rs199422194
HLI	rs199422194
Exac	rs199422194
Gnomad	rs199422194
Varsome	rs199422194
LitVar	rs199422194
Map	rs199422194
PheGenI	rs199422194
Biobank	rs199422194
1000 genomes	rs199422194
hgdp	rs199422194
ensembl	rs199422194
geneview	rs199422194
scholar	rs199422194
google	rs199422194
pharmgkb	rs199422194
gwascentral	rs199422194
openSNP	rs199422194
23andMe	rs199422194
SNPshot	rs199422194
SNPdbe	rs199422194
MSV3d	rs199422194
GWAS Ctlg	rs199422194

Max Magnitude

0

ClinVar
Risk	rs199422194(T;T)
Alt	rs199422194(T;T)
Reference	Rs199422194(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197059458G>A
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020824.2, RCV000216613.1,