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rs312262874

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
(AAGAA;AAGAA) 0 common in clinvar
(I;I) 0 common genotype
Make rs312262874(-;-)
Make rs312262874(-;AAGAA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13756678
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262874
dbSNP (classic)rs312262874
ClinGenrs312262874
ebirs312262874
HLIrs312262874
Exacrs312262874
Gnomadrs312262874
Varsomers312262874
LitVarrs312262874
Maprs312262874
PheGenIrs312262874
Biobankrs312262874
1000 genomesrs312262874
hgdprs312262874
ensemblrs312262874
geneviewrs312262874
scholarrs312262874
googlers312262874
pharmgkbrs312262874
gwascentralrs312262874
openSNPrs312262874
23andMers312262874
SNPshotrs312262874
SNPdbers312262874
MSV3drs312262874
GWAS Ctlgrs312262874
Max Magnitude0
ClinVar
Risk rs312262874(-;-)
Alt rs312262874(-;-)
Reference Rs312262874(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.13774797_13774801delAAGAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000033973.2,