rs200879436

Orientation

plus

Stabilized

plus

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

Make rs200879436(C;C)

Make rs200879436(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48768237

Gene

CEP152

is a	snp
is	mentioned by
dbSNP	rs200879436
dbSNP (classic)	rs200879436
ClinGen	rs200879436
ebi	rs200879436
HLI	rs200879436
Exac	rs200879436
Gnomad	rs200879436
Varsome	rs200879436
LitVar	rs200879436
Map	rs200879436
PheGenI	rs200879436
Biobank	rs200879436
1000 genomes	rs200879436
hgdp	rs200879436
ensembl	rs200879436
geneview	rs200879436
scholar	rs200879436
google	rs200879436
pharmgkb	rs200879436
gwascentral	rs200879436
openSNP	rs200879436
23andMe	rs200879436
SNPshot	rs200879436
SNPdbe	rs200879436
MSV3d	rs200879436
GWAS Ctlg	rs200879436

GMAF

0.002755

Max Magnitude

0

ClinVar
Risk	rs200879436(C;C)
Alt	rs200879436(C;C)
Reference	Rs200879436(T;T)
Significance	Pathogenic
Disease	Seckel syndrome 5 not specified
Variation	info
Gene	CEP152
CLNDBN	Seckel syndrome 5 not specified
Reversed	0
HGVS	NC_000015.9:g.49060434T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024028.3, RCV000145604.3,