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rs312262831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262831(-;-)
Make rs312262831(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13739031
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262831
dbSNP (classic)rs312262831
ClinGenrs312262831
ebirs312262831
HLIrs312262831
Exacrs312262831
Gnomadrs312262831
Varsomers312262831
LitVarrs312262831
Maprs312262831
PheGenIrs312262831
Biobankrs312262831
1000 genomesrs312262831
hgdprs312262831
ensemblrs312262831
geneviewrs312262831
scholarrs312262831
googlers312262831
pharmgkbrs312262831
gwascentralrs312262831
openSNPrs312262831
23andMers312262831
SNPshotrs312262831
SNPdbers312262831
MSV3drs312262831
GWAS Ctlgrs312262831
Max Magnitude0
ClinVar
Risk rs312262831(-;-)
Alt rs312262831(-;-)
Reference Rs312262831(A;A)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13757150delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034017.2,