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rs863225128

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225128(-;-)
Make rs863225128(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position69509342
GeneOCLN
is asnp
is mentioned by
dbSNPrs863225128
dbSNP (old)rs863225128
ClinGenrs863225128
ebirs863225128
HLIrs863225128
Exacrs863225128
Gnomadrs863225128
Varsomers863225128
Maprs863225128
PheGenIrs863225128
Biobankrs863225128
1000 genomesrs863225128
hgdprs863225128
ensemblrs863225128
gopubmedrs863225128
geneviewrs863225128
scholarrs863225128
googlers863225128
pharmgkbrs863225128
gwascentralrs863225128
openSNPrs863225128
23andMers863225128
23andMe allrs863225128
SNP Nexus

SNPshotrs863225128
SNPdbers863225128
MSV3drs863225128
GWAS Ctlgrs863225128
Max Magnitude0
ClinVar
Risk rs863225128(-;-)
Alt rs863225128(-;-)
Reference Rs863225128(C;C)
Significance Probable-Pathogenic
Disease Band-like calcification with simplified gyration and polymicrogyria
Variation info
Gene OCLN
CLNDBN Band-like calcification with simplified gyration and polymicrogyria
Reversed 0
HGVS NC_000005.9:g.68805169delC
CLNSRC
CLNACC RCV000201608.1,