rs199422196

Orientation

minus

Stabilized

minus

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

Make rs199422196(-;-)

Make rs199422196(-;CT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090279

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422196
dbSNP (classic)	rs199422196
ClinGen	rs199422196
ebi	rs199422196
HLI	rs199422196
Exac	rs199422196
Gnomad	rs199422196
Varsome	rs199422196
LitVar	rs199422196
Map	rs199422196
PheGenI	rs199422196
Biobank	rs199422196
1000 genomes	rs199422196
hgdp	rs199422196
ensembl	rs199422196
geneview	rs199422196
scholar	rs199422196
google	rs199422196
pharmgkb	rs199422196
gwascentral	rs199422196
openSNP	rs199422196
23andMe	rs199422196
SNPshot	rs199422196
SNPdbe	rs199422196
MSV3d	rs199422196
GWAS Ctlg	rs199422196

Max Magnitude

0

ClinVar
Risk	rs199422196(-;-)
Alt	rs199422196(-;-)
Reference	Rs199422196(CT;CT)
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.197059409_197059410delAG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020826.1,