rs199422168

Orientation

minus

Stabilized

minus

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

Make rs199422168(C;T)

Make rs199422168(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197103019

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422168
dbSNP (classic)	rs199422168
ClinGen	rs199422168
ebi	rs199422168
HLI	rs199422168
Exac	rs199422168
Gnomad	rs199422168
Varsome	rs199422168
LitVar	rs199422168
Map	rs199422168
PheGenI	rs199422168
Biobank	rs199422168
1000 genomes	rs199422168
hgdp	rs199422168
ensembl	rs199422168
geneview	rs199422168
scholar	rs199422168
google	rs199422168
pharmgkb	rs199422168
gwascentral	rs199422168
openSNP	rs199422168
23andMe	rs199422168
SNPshot	rs199422168
SNPdbe	rs199422168
MSV3d	rs199422168
GWAS Ctlg	rs199422168

Max Magnitude

0

ClinVar
Risk	rs199422168(T;T)
Alt	rs199422168(T;T)
Reference	Rs199422168(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.197072149G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020784.1,