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rs312262863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262863(C;T)
Make rs312262863(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13753411
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262863
dbSNP (classic)rs312262863
ClinGenrs312262863
ebirs312262863
HLIrs312262863
Exacrs312262863
Gnomadrs312262863
Varsomers312262863
LitVarrs312262863
Maprs312262863
PheGenIrs312262863
Biobankrs312262863
1000 genomesrs312262863
hgdprs312262863
ensemblrs312262863
geneviewrs312262863
scholarrs312262863
googlers312262863
pharmgkbrs312262863
gwascentralrs312262863
openSNPrs312262863
23andMers312262863
SNPshotrs312262863
SNPdbers312262863
MSV3drs312262863
GWAS Ctlgrs312262863
Max Magnitude0
ClinVar
Risk rs312262863(T;T)
Alt rs312262863(T;T)
Reference Rs312262863(C;C)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13771530C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033955.2,