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rs312262815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262815(C;G)
Make rs312262815(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736607
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262815
ebirs312262815
HLIrs312262815
Exacrs312262815
Varsomers312262815
Maprs312262815
PheGenIrs312262815
hapmaprs312262815
1000 genomesrs312262815
hgdprs312262815
ensemblrs312262815
gopubmedrs312262815
geneviewrs312262815
scholarrs312262815
googlers312262815
pharmgkbrs312262815
gwascentralrs312262815
openSNPrs312262815
23andMers312262815
23andMe allrs312262815
SNP Nexus

SNPshotrs312262815
SNPdbers312262815
MSV3drs312262815
GWAS Ctlgrs312262815
Max Magnitude0
ClinVar
Risk rs312262815(G;G)
Alt rs312262815(G;G)
Reference rs312262815(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.13754726C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000033999.2,