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rs312262854

From SNPedia

Merged intors312262852
Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs312262854(-;-)
Make rs312262854(-;AA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13749437
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262854
dbSNP (classic)rs312262854
ClinGenrs312262854
ebirs312262854
HLIrs312262854
Exacrs312262854
Gnomadrs312262854
Varsomers312262854
LitVarrs312262854
Maprs312262854
PheGenIrs312262854
Biobankrs312262854
1000 genomesrs312262854
hgdprs312262854
ensemblrs312262854
geneviewrs312262854
scholarrs312262854
googlers312262854
pharmgkbrs312262854
gwascentralrs312262854
openSNPrs312262854
23andMers312262854
SNPshotrs312262854
SNPdbers312262854
MSV3drs312262854
GWAS Ctlgrs312262854
StatusMerged into rs312262852
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs312262854(AA;AA)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13767556_13767557delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034048.3,