rs730882227

Orientation

plus

Stabilized

plus

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

Make rs730882227(-;T)

Make rs730882227(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

69509604

Gene

OCLN

is a	snp
is	mentioned by
dbSNP	rs730882227
dbSNP (classic)	rs730882227
ClinGen	rs730882227
ebi	rs730882227
HLI	rs730882227
Exac	rs730882227
Gnomad	rs730882227
Varsome	rs730882227
LitVar	rs730882227
Map	rs730882227
PheGenI	rs730882227
Biobank	rs730882227
1000 genomes	rs730882227
hgdp	rs730882227
ensembl	rs730882227
geneview	rs730882227
scholar	rs730882227
google	rs730882227
pharmgkb	rs730882227
gwascentral	rs730882227
openSNP	rs730882227
23andMe	rs730882227
SNPshot	rs730882227
SNPdbe	rs730882227
MSV3d	rs730882227
GWAS Ctlg	rs730882227

Max Magnitude

0

ClinVar
Risk	rs730882227(T;T)
Alt	rs730882227(T;T)
Reference	Rs730882227(-;-)
Significance	Probable-Pathogenic
Disease	Cerebral calcification Global developmental delay Primary microcephaly
Variation	info
Gene	OCLN
CLNDBN	Cerebral calcification Global developmental delay Primary microcephaly
Reversed	0
HGVS	NC_000005.9:g.68805431dupT
CLNSRC	King Faisal Specialist Hospital and Research Center
CLNACC	RCV000162145.1,