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rs312262844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262844(-;-)
Make rs312262844(-;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746800
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262844
ebirs312262844
HLIrs312262844
Exacrs312262844
Varsomers312262844
Maprs312262844
PheGenIrs312262844
hapmaprs312262844
1000 genomesrs312262844
hgdprs312262844
ensemblrs312262844
gopubmedrs312262844
geneviewrs312262844
scholarrs312262844
googlers312262844
pharmgkbrs312262844
gwascentralrs312262844
openSNPrs312262844
23andMers312262844
23andMe allrs312262844
SNP Nexus

SNPshotrs312262844
SNPdbers312262844
MSV3drs312262844
GWAS Ctlgrs312262844
Max Magnitude0
ClinVar
Risk rs312262844(;)
Alt rs312262844(;)
Reference rs312262844(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.13764919delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034037.2,