rs199422131

Orientation

minus

Stabilized

minus

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

Make rs199422131(-;-)

Make rs199422131(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197146364

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422131
dbSNP (classic)	rs199422131
ClinGen	rs199422131
ebi	rs199422131
HLI	rs199422131
Exac	rs199422131
Gnomad	rs199422131
Varsome	rs199422131
LitVar	rs199422131
Map	rs199422131
PheGenI	rs199422131
Biobank	rs199422131
1000 genomes	rs199422131
hgdp	rs199422131
ensembl	rs199422131
geneview	rs199422131
scholar	rs199422131
google	rs199422131
pharmgkb	rs199422131
gwascentral	rs199422131
openSNP	rs199422131
23andMe	rs199422131
SNPshot	rs199422131
SNPdbe	rs199422131
MSV3d	rs199422131
GWAS Ctlg	rs199422131

Merged from

Rs199422132

Max Magnitude

0

ClinVar
Risk	rs199422131(-;-)
Alt	rs199422131(-;-)
Reference	Rs199422131(G;G)
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.197115491delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020797.3,