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rs312262833

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262833(G;G)
Make rs312262833(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13744405
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262833
dbSNP (classic)rs312262833
ClinGenrs312262833
ebirs312262833
HLIrs312262833
Exacrs312262833
Gnomadrs312262833
Varsomers312262833
LitVarrs312262833
Maprs312262833
PheGenIrs312262833
Biobankrs312262833
1000 genomesrs312262833
hgdprs312262833
ensemblrs312262833
geneviewrs312262833
scholarrs312262833
googlers312262833
pharmgkbrs312262833
gwascentralrs312262833
openSNPrs312262833
23andMers312262833
SNPshotrs312262833
SNPdbers312262833
MSV3drs312262833
GWAS Ctlgrs312262833
Max Magnitude0
ClinVar
Risk rs312262833(C;C) rs312262833(G;G)
Alt rs312262833(C;C) rs312262833(G;G)
Reference Rs312262833(T;T)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13762524T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012296.15,