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rs312262820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262820(A;G)
Make rs312262820(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736656
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262820
dbSNP (classic)rs312262820
ClinGenrs312262820
ebirs312262820
HLIrs312262820
Exacrs312262820
Gnomadrs312262820
Varsomers312262820
LitVarrs312262820
Maprs312262820
PheGenIrs312262820
Biobankrs312262820
1000 genomesrs312262820
hgdprs312262820
ensemblrs312262820
geneviewrs312262820
scholarrs312262820
googlers312262820
pharmgkbrs312262820
gwascentralrs312262820
openSNPrs312262820
23andMers312262820
SNPshotrs312262820
SNPdbers312262820
MSV3drs312262820
GWAS Ctlgrs312262820
Max Magnitude0
ClinVar
Risk rs312262820(G;G)
Alt rs312262820(G;G)
Reference Rs312262820(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.13754775A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034006.2,