rs199422169

Orientation

minus

Stabilized

minus

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

Make rs199422169(-;-)

Make rs199422169(-;AT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197102915

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422169
dbSNP (classic)	rs199422169
ClinGen	rs199422169
ebi	rs199422169
HLI	rs199422169
Exac	rs199422169
Gnomad	rs199422169
Varsome	rs199422169
LitVar	rs199422169
Map	rs199422169
PheGenI	rs199422169
Biobank	rs199422169
1000 genomes	rs199422169
hgdp	rs199422169
ensembl	rs199422169
geneview	rs199422169
scholar	rs199422169
google	rs199422169
pharmgkb	rs199422169
gwascentral	rs199422169
openSNP	rs199422169
23andMe	rs199422169
SNPshot	rs199422169
SNPdbe	rs199422169
MSV3d	rs199422169
GWAS Ctlg	rs199422169

Merged from

Rs886039514

Max Magnitude

0

ClinVar
Risk	rs199422169(-;-)
Alt	rs199422169(-;-)
Reference	Rs199422169(AT;AT)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197072043_197072044delAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020785.1, RCV000255248.1,