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rs312262865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AATT;AATT) 0 common in clinvar
(TTAA;TTAA) 0 common in clinvar
Make rs312262865(-;-)
Make rs312262865(-;AATT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13755129
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262865
ebirs312262865
HLIrs312262865
Exacrs312262865
Varsomers312262865
Maprs312262865
PheGenIrs312262865
hapmaprs312262865
1000 genomesrs312262865
hgdprs312262865
ensemblrs312262865
gopubmedrs312262865
geneviewrs312262865
scholarrs312262865
googlers312262865
pharmgkbrs312262865
gwascentralrs312262865
openSNPrs312262865
23andMers312262865
23andMe allrs312262865
SNP Nexus

SNPshotrs312262865
SNPdbers312262865
MSV3drs312262865
GWAS Ctlgrs312262865
Max Magnitude0
ClinVar
Risk rs312262865(;)
Alt rs312262865(;)
Reference rs312262865(TTAA;TTAA)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13773248_13773251delAATT
CLNSRC ClinVar GeneReviews
CLNACC RCV000033961.2,