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rs312262862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAGGATG;GAAGGATG) 0 common in clinvar
Make rs312262862(GAAGGATG;TTTTTCCT)
Make rs312262862(TTTTTCCT;TTTTTCCT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13753383
GeneOFD1
is asnp
is mentioned by
dbSNPrs312262862
ebirs312262862
HLIrs312262862
Exacrs312262862
Varsomers312262862
Maprs312262862
PheGenIrs312262862
hapmaprs312262862
1000 genomesrs312262862
hgdprs312262862
ensemblrs312262862
gopubmedrs312262862
geneviewrs312262862
scholarrs312262862
googlers312262862
pharmgkbrs312262862
gwascentralrs312262862
openSNPrs312262862
23andMers312262862
23andMe allrs312262862
SNP Nexus

SNPshotrs312262862
SNPdbers312262862
MSV3drs312262862
GWAS Ctlgrs312262862
Max Magnitude0
ClinVar
Risk rs312262862(TTTTTCCT;TTTTTCCT)
Alt rs312262862(TTTTTCCT;TTTTTCCT)
Reference rs312262862(GAAGGATG;GAAGGATG)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13771502_13771509delGAAGGATGinsTTTTTCCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000033954.2,