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rs312262887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs312262887(-;-)
Make rs312262887(-;CT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13760439
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262887
dbSNP (classic)rs312262887
ClinGenrs312262887
ebirs312262887
HLIrs312262887
Exacrs312262887
Gnomadrs312262887
Varsomers312262887
LitVarrs312262887
Maprs312262887
PheGenIrs312262887
Biobankrs312262887
1000 genomesrs312262887
hgdprs312262887
ensemblrs312262887
geneviewrs312262887
scholarrs312262887
googlers312262887
pharmgkbrs312262887
gwascentralrs312262887
openSNPrs312262887
23andMers312262887
SNPshotrs312262887
SNPdbers312262887
MSV3drs312262887
GWAS Ctlgrs312262887
Max Magnitude0
ClinVar
Risk rs312262887(-;-)
Alt rs312262887(-;-)
Reference Rs312262887(CT;CT)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13778558_13778559delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000033988.2,