rs869312853

Orientation

minus

Stabilized

minus

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

Make rs869312853(AA;T)

Make rs869312853(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48756233

Gene

CEP152

is a	snp
is	mentioned by
dbSNP	rs869312853
dbSNP (classic)	rs869312853
ClinGen	rs869312853
ebi	rs869312853
HLI	rs869312853
Exac	rs869312853
Gnomad	rs869312853
Varsome	rs869312853
LitVar	rs869312853
Map	rs869312853
PheGenI	rs869312853
Biobank	rs869312853
1000 genomes	rs869312853
hgdp	rs869312853
ensembl	rs869312853
geneview	rs869312853
scholar	rs869312853
google	rs869312853
pharmgkb	rs869312853
gwascentral	rs869312853
openSNP	rs869312853
23andMe	rs869312853
SNPshot	rs869312853
SNPdbe	rs869312853
MSV3d	rs869312853
GWAS Ctlg	rs869312853

Max Magnitude

0

ClinVar
Risk	rs869312853(T;T)
Alt	rs869312853(T;T)
Reference	Rs869312853(AA;AA)
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.49048430_49048431delTTinsA
CLNSRC
CLNACC	RCV000192978.1,