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rs387906826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906826(A;G)
Make rs387906826(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position52397707
GeneORC1
is asnp
is mentioned by
dbSNPrs387906826
dbSNP (classic)rs387906826
ClinGenrs387906826
ebirs387906826
HLIrs387906826
Exacrs387906826
Gnomadrs387906826
Varsomers387906826
LitVarrs387906826
Maprs387906826
PheGenIrs387906826
Biobankrs387906826
1000 genomesrs387906826
hgdprs387906826
ensemblrs387906826
geneviewrs387906826
scholarrs387906826
googlers387906826
pharmgkbrs387906826
gwascentralrs387906826
openSNPrs387906826
23andMers387906826
SNPshotrs387906826
SNPdbers387906826
MSV3drs387906826
GWAS Ctlgrs387906826
Max Magnitude0
ClinVar
Risk rs387906826(G;G)
Alt rs387906826(G;G)
Reference Rs387906826(A;A)
Significance Pathogenic
Disease Meier-Gorlin syndrome 1
Variation info
Gene ORC1
CLNDBN Meier-Gorlin syndrome 1
Reversed 1
HGVS NC_000001.10:g.52863379T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023154.3,