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rs312262883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262883(-;-)
Make rs312262883(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13758381
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262883
dbSNP (classic)rs312262883
ClinGenrs312262883
ebirs312262883
HLIrs312262883
Exacrs312262883
Gnomadrs312262883
Varsomers312262883
LitVarrs312262883
Maprs312262883
PheGenIrs312262883
Biobankrs312262883
1000 genomesrs312262883
hgdprs312262883
ensemblrs312262883
geneviewrs312262883
scholarrs312262883
googlers312262883
pharmgkbrs312262883
gwascentralrs312262883
openSNPrs312262883
23andMers312262883
SNPshotrs312262883
SNPdbers312262883
MSV3drs312262883
GWAS Ctlgrs312262883
Max Magnitude0
ClinVar
Risk rs312262883(-;-)
Alt rs312262883(-;-)
Reference Rs312262883(A;A)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13776500delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000033982.2,