rs879253817

Orientation

minus

Stabilized

minus

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

Make rs879253817(-;-)

Make rs879253817(-;ATCCTTTGGA)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

119876131

Gene

CIT

is a	snp
is	mentioned by
dbSNP	rs879253817
dbSNP (classic)	rs879253817
ClinGen	rs879253817
ebi	rs879253817
HLI	rs879253817
Exac	rs879253817
Gnomad	rs879253817
Varsome	rs879253817
LitVar	rs879253817
Map	rs879253817
PheGenI	rs879253817
Biobank	rs879253817
1000 genomes	rs879253817
hgdp	rs879253817
ensembl	rs879253817
geneview	rs879253817
scholar	rs879253817
google	rs879253817
pharmgkb	rs879253817
gwascentral	rs879253817
openSNP	rs879253817
23andMe	rs879253817
SNPshot	rs879253817
SNPdbe	rs879253817
MSV3d	rs879253817
GWAS Ctlg	rs879253817

Max Magnitude

0

ClinVar
Risk	rs879253817(-;-)
Alt	rs879253817(-;-)
Reference	Rs879253817(ATCCTTTGGA;ATCCTTTGGA)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly Microcephaly 17
Variation	info
Gene	CIT
CLNDBN	Primary autosomal recessive microcephaly Microcephaly 17, primary, autosomal recessive
Reversed	1
HGVS	NC_000012.11:g.120313935_120313944delTCCAAAGGAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000234954.1, RCV000240609.1,