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rs312262861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262861(A;G)
Make rs312262861(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13753366
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262861
ebirs312262861
HLIrs312262861
Exacrs312262861
Varsomers312262861
Maprs312262861
PheGenIrs312262861
hapmaprs312262861
1000 genomesrs312262861
hgdprs312262861
ensemblrs312262861
gopubmedrs312262861
geneviewrs312262861
scholarrs312262861
googlers312262861
pharmgkbrs312262861
gwascentralrs312262861
openSNPrs312262861
23andMers312262861
23andMe allrs312262861
SNP Nexus

SNPshotrs312262861
SNPdbers312262861
MSV3drs312262861
GWAS Ctlgrs312262861
Max Magnitude0
ClinVar
Risk rs312262861(G,T;G,T)
Alt rs312262861(G,T;G,T)
Reference rs312262861(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.13771485A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033952.2,


[PMID 18546297] Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.