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rs312262809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262809(C;C)
Make rs312262809(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13735348
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262809
ebirs312262809
HLIrs312262809
Exacrs312262809
Varsomers312262809
Maprs312262809
PheGenIrs312262809
hapmaprs312262809
1000 genomesrs312262809
hgdprs312262809
ensemblrs312262809
gopubmedrs312262809
geneviewrs312262809
scholarrs312262809
googlers312262809
pharmgkbrs312262809
gwascentralrs312262809
openSNPrs312262809
23andMers312262809
23andMe allrs312262809
SNP Nexus

SNPshotrs312262809
SNPdbers312262809
MSV3drs312262809
GWAS Ctlgrs312262809
Max Magnitude0
ClinVar
Risk rs312262809(C;C)
Alt rs312262809(C;C)
Reference rs312262809(T;T)
Significance Pathogenic
Disease Oral-facial-digital syndrome not provided
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome not provided
Reversed 0
HGVS NC_000023.10:g.13753467T>C
CLNSRC HGMD
CLNACC RCV000033957.2, RCV000080338.4,