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rs312262814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262814(A;A)
Make rs312262814(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736601
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262814
ebirs312262814
HLIrs312262814
Exacrs312262814
Varsomers312262814
Maprs312262814
PheGenIrs312262814
hapmaprs312262814
1000 genomesrs312262814
hgdprs312262814
ensemblrs312262814
gopubmedrs312262814
geneviewrs312262814
scholarrs312262814
googlers312262814
pharmgkbrs312262814
gwascentralrs312262814
openSNPrs312262814
23andMers312262814
23andMe allrs312262814
SNP Nexus

SNPshotrs312262814
SNPdbers312262814
MSV3drs312262814
GWAS Ctlgrs312262814
Max Magnitude0
ClinVar
Risk rs312262814(A;A)
Alt rs312262814(A;A)
Reference rs312262814(G;G)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754720G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033998.2,