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rs397515380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACACTTGGGCTCAA;ACACTTGGGCTCAA) 0 common in clinvar
(CTCAAACACTTGGG;CTCAAACACTTGGG) 0 common in clinvar
Make rs397515380(-;-)
Make rs397515380(-;ACACTTGGGCTCAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13750699
GeneOFD1
is asnp
is mentioned by
dbSNPrs397515380
dbSNP (classic)rs397515380
ClinGenrs397515380
ebirs397515380
HLIrs397515380
Exacrs397515380
Gnomadrs397515380
Varsomers397515380
LitVarrs397515380
Maprs397515380
PheGenIrs397515380
Biobankrs397515380
1000 genomesrs397515380
hgdprs397515380
ensemblrs397515380
geneviewrs397515380
scholarrs397515380
googlers397515380
pharmgkbrs397515380
gwascentralrs397515380
openSNPrs397515380
23andMers397515380
SNPshotrs397515380
SNPdbers397515380
MSV3drs397515380
GWAS Ctlgrs397515380
Max Magnitude0
ClinVar
Risk rs397515380(-;-)
Alt rs397515380(-;-)
Reference Rs397515380(CTCAAACACTTGGG;CTCAAACACTTGGG)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13768818_13768831delACACTTGGGCTCAA
CLNSRC
CLNACC RCV000012298.11,