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rs312262810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262810(C;T)
Make rs312262810(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736487
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262810
ebirs312262810
HLIrs312262810
Exacrs312262810
Varsomers312262810
Maprs312262810
PheGenIrs312262810
hapmaprs312262810
1000 genomesrs312262810
hgdprs312262810
ensemblrs312262810
gopubmedrs312262810
geneviewrs312262810
scholarrs312262810
googlers312262810
pharmgkbrs312262810
gwascentralrs312262810
openSNPrs312262810
23andMers312262810
23andMe allrs312262810
SNP Nexus

SNPshotrs312262810
SNPdbers312262810
MSV3drs312262810
GWAS Ctlgrs312262810
Max Magnitude0
ClinVar
Risk rs312262810(T;T)
Alt rs312262810(T;T)
Reference rs312262810(C;C)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754606C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033965.2,