rs144716013

Orientation

plus

Stabilized

plus

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

Make rs144716013(C;T)

Make rs144716013(T;T)

Reference

GRCh38 38.1/142

Chromosome

4

Position

103158691

Gene

CENPE

is a	snp
is	mentioned by
dbSNP	rs144716013
dbSNP (classic)	rs144716013
ClinGen	rs144716013
ebi	rs144716013
HLI	rs144716013
Exac	rs144716013
Gnomad	rs144716013
Varsome	rs144716013
LitVar	rs144716013
Map	rs144716013
PheGenI	rs144716013
Biobank	rs144716013
1000 genomes	rs144716013
hgdp	rs144716013
ensembl	rs144716013
geneview	rs144716013
scholar	rs144716013
google	rs144716013
pharmgkb	rs144716013
gwascentral	rs144716013
openSNP	rs144716013
23andMe	rs144716013
SNPshot	rs144716013
SNPdbe	rs144716013
MSV3d	rs144716013
GWAS Ctlg	rs144716013

Max Magnitude

0

ClinVar
Risk	rs144716013(A;A) rs144716013(T;T)
Alt	rs144716013(A;A) rs144716013(T;T)
Reference	Rs144716013(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 13 not provided
Variation	info
Gene	CENPE
CLNDBN	Primary autosomal recessive microcephaly 13 not provided
Reversed	0
HGVS	NC_000004.11:g.104079848C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144849.5, RCV000413895.1,