rs199422163

Orientation

minus

Stabilized

minus

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

Make rs199422163(-;A)

Make rs199422163(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197105055

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422163
dbSNP (classic)	rs199422163
ClinGen	rs199422163
ebi	rs199422163
HLI	rs199422163
Exac	rs199422163
Gnomad	rs199422163
Varsome	rs199422163
LitVar	rs199422163
Map	rs199422163
PheGenI	rs199422163
Biobank	rs199422163
1000 genomes	rs199422163
hgdp	rs199422163
ensembl	rs199422163
geneview	rs199422163
scholar	rs199422163
google	rs199422163
pharmgkb	rs199422163
gwascentral	rs199422163
openSNP	rs199422163
23andMe	rs199422163
SNPshot	rs199422163
SNPdbe	rs199422163
MSV3d	rs199422163
GWAS Ctlg	rs199422163

Max Magnitude

0

ClinVar
Risk	rs199422163(A;A)
Alt	rs199422163(A;A)
Reference	Rs199422163(-;-)
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.197074186dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005252.4,