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rs312262853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
Make rs312262853(-;-)
Make rs312262853(-;AAAAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13749435
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262853
ebirs312262853
HLIrs312262853
Exacrs312262853
Varsomers312262853
Maprs312262853
PheGenIrs312262853
hapmaprs312262853
1000 genomesrs312262853
hgdprs312262853
ensemblrs312262853
gopubmedrs312262853
geneviewrs312262853
scholarrs312262853
googlers312262853
pharmgkbrs312262853
gwascentralrs312262853
openSNPrs312262853
23andMers312262853
23andMe allrs312262853
SNP Nexus

SNPshotrs312262853
SNPdbers312262853
MSV3drs312262853
GWAS Ctlgrs312262853
Max Magnitude0
ClinVar
Risk rs312262853(;)
Alt rs312262853(;)
Reference rs312262853(AAAAG;AAAAG)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13767554_13767558delAAAAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034047.2,