rs267606718

Orientation

minus

Stabilized

minus

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

Make rs267606718(C;T)

Make rs267606718(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48756289

Gene

CEP152

is a	snp
is	mentioned by
dbSNP	rs267606718
dbSNP (classic)	rs267606718
ClinGen	rs267606718
ebi	rs267606718
HLI	rs267606718
Exac	rs267606718
Gnomad	rs267606718
Varsome	rs267606718
LitVar	rs267606718
Map	rs267606718
PheGenI	rs267606718
Biobank	rs267606718
1000 genomes	rs267606718
hgdp	rs267606718
ensembl	rs267606718
geneview	rs267606718
scholar	rs267606718
google	rs267606718
pharmgkb	rs267606718
gwascentral	rs267606718
openSNP	rs267606718
23andMe	rs267606718
SNPshot	rs267606718
SNPdbe	rs267606718
MSV3d	rs267606718
GWAS Ctlg	rs267606718

Max Magnitude

0

ClinVar
Risk	rs267606718(G;G) rs267606718(T;T)
Alt	rs267606718(G;G) rs267606718(T;T)
Reference	Rs267606718(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 9
Variation	info
Gene	CEP152
CLNDBN	Primary autosomal recessive microcephaly 9
Reversed	1
HGVS	NC_000015.9:g.49048486G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000073.4,