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rs312262811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAGTG;GAGTG) 0 common in clinvar
(TGGAG;TGGAG) 0 common in clinvar
Make rs312262811(-;-)
Make rs312262811(-;TGGAG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736528
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262811
ebirs312262811
HLIrs312262811
Exacrs312262811
Varsomers312262811
Maprs312262811
PheGenIrs312262811
hapmaprs312262811
1000 genomesrs312262811
hgdprs312262811
ensemblrs312262811
gopubmedrs312262811
geneviewrs312262811
scholarrs312262811
googlers312262811
pharmgkbrs312262811
gwascentralrs312262811
openSNPrs312262811
23andMers312262811
23andMe allrs312262811
SNP Nexus

SNPshotrs312262811
SNPdbers312262811
MSV3drs312262811
GWAS Ctlgrs312262811
Max Magnitude0
ClinVar
Risk rs312262811(;)
Alt rs312262811(;)
Reference rs312262811(GAGTG;GAGTG)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754647_13754651delTGGAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000033983.2,