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rs797045840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045840(A;A)
Make rs797045840(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position69534844
GeneOCLN
is asnp
is mentioned by
dbSNPrs797045840
dbSNP (classic)rs797045840
ClinGenrs797045840
ebirs797045840
HLIrs797045840
Exacrs797045840
Gnomadrs797045840
Varsomers797045840
LitVarrs797045840
Maprs797045840
PheGenIrs797045840
Biobankrs797045840
1000 genomesrs797045840
hgdprs797045840
ensemblrs797045840
geneviewrs797045840
scholarrs797045840
googlers797045840
pharmgkbrs797045840
gwascentralrs797045840
openSNPrs797045840
23andMers797045840
SNPshotrs797045840
SNPdbers797045840
MSV3drs797045840
GWAS Ctlgrs797045840
Max Magnitude0
ClinVar
Risk rs797045840(A;A)
Alt rs797045840(A;A)
Reference Rs797045840(G;G)
Significance 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.68830671G>A
CLNSRC
CLNACC RCV000194654.1,