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rs312262829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262829(A;G)
Make rs312262829(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13739000
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262829
dbSNP (classic)rs312262829
ClinGenrs312262829
ebirs312262829
HLIrs312262829
Exacrs312262829
Gnomadrs312262829
Varsomers312262829
LitVarrs312262829
Maprs312262829
PheGenIrs312262829
Biobankrs312262829
1000 genomesrs312262829
hgdprs312262829
ensemblrs312262829
geneviewrs312262829
scholarrs312262829
googlers312262829
pharmgkbrs312262829
gwascentralrs312262829
openSNPrs312262829
23andMers312262829
SNPshotrs312262829
SNPdbers312262829
MSV3drs312262829
GWAS Ctlgrs312262829
Max Magnitude0
ClinVar
Risk rs312262829(G;G)
Alt rs312262829(G;G)
Reference Rs312262829(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.13757119A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034014.2,