rs199422177

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar

Make rs199422177(-;-)

Make rs199422177(-;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101060

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422177
dbSNP (classic)	rs199422177
ClinGen	rs199422177
ebi	rs199422177
HLI	rs199422177
Exac	rs199422177
Gnomad	rs199422177
Varsome	rs199422177
LitVar	rs199422177
Map	rs199422177
PheGenI	rs199422177
Biobank	rs199422177
1000 genomes	rs199422177
hgdp	rs199422177
ensembl	rs199422177
geneview	rs199422177
scholar	rs199422177
google	rs199422177
pharmgkb	rs199422177
gwascentral	rs199422177
openSNP	rs199422177
23andMe	rs199422177
SNPshot	rs199422177
SNPdbe	rs199422177
MSV3d	rs199422177
GWAS Ctlg	rs199422177

Max Magnitude

0

ClinVar
Risk	Rs199422177(GA;GA) rs199422177(-;-)
Alt	Rs199422177(GA;GA) rs199422177(-;-)
Reference	Rs199422177(AG;AG)
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.197070190_197070191delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020803.1,