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rs312262828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262828(C;G)
Make rs312262828(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13738999
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262828
dbSNP (classic)rs312262828
ClinGenrs312262828
ebirs312262828
HLIrs312262828
Exacrs312262828
Gnomadrs312262828
Varsomers312262828
LitVarrs312262828
Maprs312262828
PheGenIrs312262828
Biobankrs312262828
1000 genomesrs312262828
hgdprs312262828
ensemblrs312262828
geneviewrs312262828
scholarrs312262828
googlers312262828
pharmgkbrs312262828
gwascentralrs312262828
openSNPrs312262828
23andMers312262828
SNPshotrs312262828
SNPdbers312262828
MSV3drs312262828
GWAS Ctlgrs312262828
Max Magnitude0
ClinVar
Risk rs312262828(G;G)
Alt rs312262828(G;G)
Reference Rs312262828(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.13757118C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034015.2,