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rs312262837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAGC;AAAGC) 0 common in clinvar
Make rs312262837(-;-)
Make rs312262837(-;AAAGC)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13746395
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262837
ebirs312262837
HLIrs312262837
Exacrs312262837
Varsomers312262837
Maprs312262837
PheGenIrs312262837
hapmaprs312262837
1000 genomesrs312262837
hgdprs312262837
ensemblrs312262837
gopubmedrs312262837
geneviewrs312262837
scholarrs312262837
googlers312262837
pharmgkbrs312262837
gwascentralrs312262837
openSNPrs312262837
23andMers312262837
23andMe allrs312262837
SNP Nexus

SNPshotrs312262837
SNPdbers312262837
MSV3drs312262837
GWAS Ctlgrs312262837
Max Magnitude0
ClinVar
Risk rs312262837(;)
Alt rs312262837(;)
Reference rs312262837(AAAGC;AAAGC)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13764514_13764518delAAAGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034027.2,