Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882227

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882227(-;-)
Make rs730882227(-;T)
Make rs730882227(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
GeneOCLN
is asnp
is mentioned by
dbSNPrs730882227
ebirs730882227
HLIrs730882227
Exacrs730882227
Varsomers730882227
Maprs730882227
PheGenIrs730882227
hapmaprs730882227
1000 genomesrs730882227
hgdprs730882227
ensemblrs730882227
gopubmedrs730882227
geneviewrs730882227
scholarrs730882227
googlers730882227
pharmgkbrs730882227
gwascentralrs730882227
openSNPrs730882227
23andMers730882227
23andMe allrs730882227
SNP Nexus

SNPshotrs730882227
SNPdbers730882227
MSV3drs730882227
GWAS Ctlgrs730882227
Max Magnitude0
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,