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rs312262858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs312262858(-;-)
Make rs312262858(-;AT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13749475
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262858
dbSNP (classic)rs312262858
ClinGenrs312262858
ebirs312262858
HLIrs312262858
Exacrs312262858
Gnomadrs312262858
Varsomers312262858
LitVarrs312262858
Maprs312262858
PheGenIrs312262858
Biobankrs312262858
1000 genomesrs312262858
hgdprs312262858
ensemblrs312262858
geneviewrs312262858
scholarrs312262858
googlers312262858
pharmgkbrs312262858
gwascentralrs312262858
openSNPrs312262858
23andMers312262858
SNPshotrs312262858
SNPdbers312262858
MSV3drs312262858
GWAS Ctlgrs312262858
Max Magnitude0
ClinVar
Risk rs312262858(-;-)
Alt rs312262858(-;-)
Reference Rs312262858(AT;AT)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13767594_13767595delAT
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000034052.3,