rs121434311

Orientation

minus

Stabilized

minus

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

Make rs121434311(A;T)

Make rs121434311(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

24884083

Gene	CENPJ, RNF17

is a	snp
is	mentioned by
dbSNP	rs121434311
dbSNP (classic)	rs121434311
ClinGen	rs121434311
ebi	rs121434311
HLI	rs121434311
Exac	rs121434311
Gnomad	rs121434311
Varsome	rs121434311
LitVar	rs121434311
Map	rs121434311
PheGenI	rs121434311
Biobank	rs121434311
1000 genomes	rs121434311
hgdp	rs121434311
ensembl	rs121434311
geneview	rs121434311
scholar	rs121434311
google	rs121434311
pharmgkb	rs121434311
gwascentral	rs121434311
openSNP	rs121434311
23andMe	rs121434311
SNPshot	rs121434311
SNPdbe	rs121434311
MSV3d	rs121434311
GWAS Ctlg	rs121434311

Max Magnitude

0

OMIM	609279
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434311(T;T)
Alt	rs121434311(T;T)
Reference	Rs121434311(A;A)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 6
Variation	info
Gene	CENPJ
CLNDBN	Primary autosomal recessive microcephaly 6
Reversed	1
HGVS	NC_000013.10:g.25458221T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001891.3,