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rs312262847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs312262847(-;-)
Make rs312262847(-;AA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746834
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262847
ebirs312262847
HLIrs312262847
Exacrs312262847
Varsomers312262847
Maprs312262847
PheGenIrs312262847
hapmaprs312262847
1000 genomesrs312262847
hgdprs312262847
ensemblrs312262847
gopubmedrs312262847
geneviewrs312262847
scholarrs312262847
googlers312262847
pharmgkbrs312262847
gwascentralrs312262847
openSNPrs312262847
23andMers312262847
23andMe allrs312262847
SNP Nexus

SNPshotrs312262847
SNPdbers312262847
MSV3drs312262847
GWAS Ctlgrs312262847
Max Magnitude0
ClinVar
Risk rs312262847(;)
Alt rs312262847(;)
Reference rs312262847(AA;AA)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13764953_13764954delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034040.2,