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rs312262839

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAAAT;AGAAAT) 0 common in clinvar
Make rs312262839(-;-)
Make rs312262839(-;AGAAAT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746416
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262839
ebirs312262839
HLIrs312262839
Exacrs312262839
Varsomers312262839
Maprs312262839
PheGenIrs312262839
hapmaprs312262839
1000 genomesrs312262839
hgdprs312262839
ensemblrs312262839
gopubmedrs312262839
geneviewrs312262839
scholarrs312262839
googlers312262839
pharmgkbrs312262839
gwascentralrs312262839
openSNPrs312262839
23andMers312262839
23andMe allrs312262839
SNP Nexus

SNPshotrs312262839
SNPdbers312262839
MSV3drs312262839
GWAS Ctlgrs312262839
Max Magnitude0
ClinVar
Risk rs312262839(;)
Alt rs312262839(;)
Reference rs312262839(AGAAAT;AGAAAT)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13764535_13764540delAGAAAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034029.2,