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rs312262842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262842(-;-)
Make rs312262842(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746454
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262842
dbSNP (classic)rs312262842
ClinGenrs312262842
ebirs312262842
HLIrs312262842
Exacrs312262842
Gnomadrs312262842
Varsomers312262842
LitVarrs312262842
Maprs312262842
PheGenIrs312262842
Biobankrs312262842
1000 genomesrs312262842
hgdprs312262842
ensemblrs312262842
geneviewrs312262842
scholarrs312262842
googlers312262842
pharmgkbrs312262842
gwascentralrs312262842
openSNPrs312262842
23andMers312262842
SNPshotrs312262842
SNPdbers312262842
MSV3drs312262842
GWAS Ctlgrs312262842
Max Magnitude0
ClinVar
Risk rs312262842(-;-)
Alt rs312262842(-;-)
Reference Rs312262842(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.13764573delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034033.2,