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rs312262806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs312262806(-;-)
Make rs312262806(-;AG)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13735278
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262806
ebirs312262806
HLIrs312262806
Exacrs312262806
Varsomers312262806
Maprs312262806
PheGenIrs312262806
hapmaprs312262806
1000 genomesrs312262806
hgdprs312262806
ensemblrs312262806
gopubmedrs312262806
geneviewrs312262806
scholarrs312262806
googlers312262806
pharmgkbrs312262806
gwascentralrs312262806
openSNPrs312262806
23andMers312262806
23andMe allrs312262806
SNP Nexus

SNPshotrs312262806
SNPdbers312262806
MSV3drs312262806
GWAS Ctlgrs312262806
Max Magnitude0
ClinVar
Risk rs312262806(;)
Alt rs312262806(;)
Reference rs312262806(GA;GA)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13753397_13753398delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034023.2,