rs141488085

Orientation

plus

Stabilized

plus

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

Make rs141488085(C;C)

Make rs141488085(C;T)

Reference

GRCh38 38.1/142

Chromosome

4

Position

103147427

Gene

CENPE

is a	snp
is	mentioned by
dbSNP	rs141488085
dbSNP (classic)	rs141488085
ClinGen	rs141488085
ebi	rs141488085
HLI	rs141488085
Exac	rs141488085
Gnomad	rs141488085
Varsome	rs141488085
LitVar	rs141488085
Map	rs141488085
PheGenI	rs141488085
Biobank	rs141488085
1000 genomes	rs141488085
hgdp	rs141488085
ensembl	rs141488085
geneview	rs141488085
scholar	rs141488085
google	rs141488085
pharmgkb	rs141488085
gwascentral	rs141488085
openSNP	rs141488085
23andMe	rs141488085
SNPshot	rs141488085
SNPdbe	rs141488085
MSV3d	rs141488085
GWAS Ctlg	rs141488085

Max Magnitude

0

ClinVar
Risk	rs141488085(C;C)
Alt	rs141488085(C;C)
Reference	Rs141488085(T;T)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 13
Variation	info
Gene	CENPE
CLNDBN	Primary autosomal recessive microcephaly 13
Reversed	0
HGVS	NC_000004.11:g.104068584T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144850.5,