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rs312262821

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGTGGTTTGGCAAAAGA;AAAGTGGTTTGGCAAAAGA) 0 common in clinvar
(TGGTTTGGCAAAAGAAAAG;TGGTTTGGCAAAAGAAAAG) 0 common in clinvar
Make rs312262821(-;-)
Make rs312262821(-;TGGTTTGGCAAAAGAAAAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736660
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262821
dbSNP (old)rs312262821
ClinGenrs312262821
ebirs312262821
HLIrs312262821
Exacrs312262821
Gnomadrs312262821
Varsomers312262821
Maprs312262821
PheGenIrs312262821
Biobankrs312262821
1000 genomesrs312262821
hgdprs312262821
ensemblrs312262821
gopubmedrs312262821
geneviewrs312262821
scholarrs312262821
googlers312262821
pharmgkbrs312262821
gwascentralrs312262821
openSNPrs312262821
23andMers312262821
23andMe allrs312262821
SNP Nexus

SNPshotrs312262821
SNPdbers312262821
MSV3drs312262821
GWAS Ctlgrs312262821
Max Magnitude0
ClinVar
Risk rs312262821(-;-)
Alt rs312262821(-;-)
Reference Rs312262821(AAAGTGGTTTGGCAAAAGA;AAAGTGGTTTGGCAAAAGA)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754779_13754797del19
CLNSRC ClinVar GeneReviews
CLNACC RCV000034007.2,