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rs397507557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAAAGTC;TAAAGTC) 0 common in clinvar
Make rs397507557(-;-)
Make rs397507557(-;TAAAGTC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736680
GeneOFD1
is asnp
is mentioned by
dbSNPrs397507557
ebirs397507557
HLIrs397507557
Exacrs397507557
Varsomers397507557
Maprs397507557
PheGenIrs397507557
hapmaprs397507557
1000 genomesrs397507557
hgdprs397507557
ensemblrs397507557
gopubmedrs397507557
geneviewrs397507557
scholarrs397507557
googlers397507557
pharmgkbrs397507557
gwascentralrs397507557
openSNPrs397507557
23andMers397507557
23andMe allrs397507557
SNP Nexus

SNPshotrs397507557
SNPdbers397507557
MSV3drs397507557
GWAS Ctlgrs397507557
Max Magnitude0
ClinVar
Risk rs397507557(;)
Alt rs397507557(;)
Reference rs397507557(TAAAGTC;TAAAGTC)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754799_13754805delTAAAGTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034008.2,