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rs312262807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262807(-;-)
Make rs312262807(-;A)
Make rs312262807(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13735300
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262807
ebirs312262807
HLIrs312262807
Exacrs312262807
Varsomers312262807
Maprs312262807
PheGenIrs312262807
hapmaprs312262807
1000 genomesrs312262807
hgdprs312262807
ensemblrs312262807
gopubmedrs312262807
geneviewrs312262807
scholarrs312262807
googlers312262807
pharmgkbrs312262807
gwascentralrs312262807
openSNPrs312262807
23andMers312262807
23andMe allrs312262807
SNP Nexus

SNPshotrs312262807
SNPdbers312262807
MSV3drs312262807
GWAS Ctlgrs312262807
Max Magnitude0
ClinVar
Risk rs312262807(A;A)
Alt rs312262807(A;A)
Reference rs312262807(;)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13753419dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034036.2,