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rs312262812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262812(C;T)
Make rs312262812(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736587
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262812
ebirs312262812
HLIrs312262812
Exacrs312262812
Varsomers312262812
Maprs312262812
PheGenIrs312262812
hapmaprs312262812
1000 genomesrs312262812
hgdprs312262812
ensemblrs312262812
gopubmedrs312262812
geneviewrs312262812
scholarrs312262812
googlers312262812
pharmgkbrs312262812
gwascentralrs312262812
openSNPrs312262812
23andMers312262812
23andMe allrs312262812
SNP Nexus

SNPshotrs312262812
SNPdbers312262812
MSV3drs312262812
GWAS Ctlgrs312262812
Max Magnitude0
ClinVar
Risk rs312262812(T;T)
Alt rs312262812(T;T)
Reference rs312262812(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.13754706C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033993.2,