rs199422135

Orientation

minus

Stabilized

minus

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

Make rs199422135(-;-)

Make rs199422135(-;CT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197143532

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422135
dbSNP (classic)	rs199422135
ClinGen	rs199422135
ebi	rs199422135
HLI	rs199422135
Exac	rs199422135
Gnomad	rs199422135
Varsome	rs199422135
LitVar	rs199422135
Map	rs199422135
PheGenI	rs199422135
Biobank	rs199422135
1000 genomes	rs199422135
hgdp	rs199422135
ensembl	rs199422135
geneview	rs199422135
scholar	rs199422135
google	rs199422135
pharmgkb	rs199422135
gwascentral	rs199422135
openSNP	rs199422135
23andMe	rs199422135
SNPshot	rs199422135
SNPdbe	rs199422135
MSV3d	rs199422135
GWAS Ctlg	rs199422135

Max Magnitude

0

ClinVar
Risk	rs199422135(-;-)
Alt	rs199422135(-;-)
Reference	Rs199422135(CT;CT)
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.197112662_197112663delAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005244.3,