rs879255523

Orientation

minus

Stabilized

minus

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

Make rs879255523(C;T)

Make rs879255523(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

119857525

Gene

CIT

is a	snp
is	mentioned by
dbSNP	rs879255523
dbSNP (classic)	rs879255523
ClinGen	rs879255523
ebi	rs879255523
HLI	rs879255523
Exac	rs879255523
Gnomad	rs879255523
Varsome	rs879255523
LitVar	rs879255523
Map	rs879255523
PheGenI	rs879255523
Biobank	rs879255523
1000 genomes	rs879255523
hgdp	rs879255523
ensembl	rs879255523
geneview	rs879255523
scholar	rs879255523
google	rs879255523
pharmgkb	rs879255523
gwascentral	rs879255523
openSNP	rs879255523
23andMe	rs879255523
SNPshot	rs879255523
SNPdbe	rs879255523
MSV3d	rs879255523
GWAS Ctlg	rs879255523

Max Magnitude

0

ClinVar
Risk	rs879255523(T;T)
Alt	rs879255523(T;T)
Reference	Rs879255523(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly
Variation	info
Gene	CIT
CLNDBN	Primary autosomal recessive microcephaly
Reversed	1
HGVS	NC_000012.11:g.120295329G>A
CLNSRC
CLNACC	RCV000239424.1,