rs199422184

Orientation

minus

Stabilized

minus

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

Make rs199422184(-;-)

Make rs199422184(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197093187

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422184
dbSNP (classic)	rs199422184
ClinGen	rs199422184
ebi	rs199422184
HLI	rs199422184
Exac	rs199422184
Gnomad	rs199422184
Varsome	rs199422184
LitVar	rs199422184
Map	rs199422184
PheGenI	rs199422184
Biobank	rs199422184
1000 genomes	rs199422184
hgdp	rs199422184
ensembl	rs199422184
geneview	rs199422184
scholar	rs199422184
google	rs199422184
pharmgkb	rs199422184
gwascentral	rs199422184
openSNP	rs199422184
23andMe	rs199422184
SNPshot	rs199422184
SNPdbe	rs199422184
MSV3d	rs199422184
GWAS Ctlg	rs199422184

Max Magnitude

0

ClinVar
Risk	rs199422184(-;-)
Alt	rs199422184(-;-)
Reference	Rs199422184(A;A)
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.197062317delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005247.3,