rs199422181

Orientation

minus

Stabilized

minus

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

Make rs199422181(C;T)

Make rs199422181(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197100583

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422181
dbSNP (classic)	rs199422181
ClinGen	rs199422181
ebi	rs199422181
HLI	rs199422181
Exac	rs199422181
Gnomad	rs199422181
Varsome	rs199422181
LitVar	rs199422181
Map	rs199422181
PheGenI	rs199422181
Biobank	rs199422181
1000 genomes	rs199422181
hgdp	rs199422181
ensembl	rs199422181
geneview	rs199422181
scholar	rs199422181
google	rs199422181
pharmgkb	rs199422181
gwascentral	rs199422181
openSNP	rs199422181
23andMe	rs199422181
SNPshot	rs199422181
SNPdbe	rs199422181
MSV3d	rs199422181
GWAS Ctlg	rs199422181

Max Magnitude

0

ClinVar
Risk	rs199422181(T;T)
Alt	rs199422181(T;T)
Reference	Rs199422181(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.197069713G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020808.1,