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rs201253919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201253919(A;A)
Make rs201253919(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position52383437
GeneORC1
is asnp
is mentioned by
dbSNPrs201253919
ebirs201253919
HLIrs201253919
Exacrs201253919
Varsomers201253919
Maprs201253919
PheGenIrs201253919
hapmaprs201253919
1000 genomesrs201253919
hgdprs201253919
ensemblrs201253919
gopubmedrs201253919
geneviewrs201253919
scholarrs201253919
googlers201253919
pharmgkbrs201253919
gwascentralrs201253919
openSNPrs201253919
23andMers201253919
23andMe allrs201253919
SNP Nexus

SNPshotrs201253919
SNPdbers201253919
MSV3drs201253919
GWAS Ctlgrs201253919
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs201253919(A;A)
Alt rs201253919(A;A)
Reference rs201253919(G;G)
Significance Pathogenic
Disease Meier-Gorlin syndrome 1
Variation info
Gene ORC1
CLNDBN Meier-Gorlin syndrome 1
Reversed 0
HGVS NC_000001.10:g.52849109G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023160.3,