rs202058504

Orientation

plus

Stabilized

plus

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

Make rs202058504(C;C)

Make rs202058504(C;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

24906452

Gene

CENPJ

is a	snp
is	mentioned by
dbSNP	rs202058504
dbSNP (classic)	rs202058504
ClinGen	rs202058504
ebi	rs202058504
HLI	rs202058504
Exac	rs202058504
Gnomad	rs202058504
Varsome	rs202058504
LitVar	rs202058504
Map	rs202058504
PheGenI	rs202058504
Biobank	rs202058504
1000 genomes	rs202058504
hgdp	rs202058504
ensembl	rs202058504
geneview	rs202058504
scholar	rs202058504
google	rs202058504
pharmgkb	rs202058504
gwascentral	rs202058504
openSNP	rs202058504
23andMe	rs202058504
SNPshot	rs202058504
SNPdbe	rs202058504
MSV3d	rs202058504
GWAS Ctlg	rs202058504

Max Magnitude

0

ClinVar
Risk	rs202058504(C;C)
Alt	rs202058504(C;C)
Reference	Rs202058504(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 6
Variation	info
Gene	CENPJ
CLNDBN	Primary autosomal recessive microcephaly 6
Reversed	0
HGVS	NC_000013.10:g.25480590G>C
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000145556.1,