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rs312262818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262818(A;G)
Make rs312262818(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736626
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262818
dbSNP (classic)rs312262818
ClinGenrs312262818
ebirs312262818
HLIrs312262818
Exacrs312262818
Gnomadrs312262818
Varsomers312262818
LitVarrs312262818
Maprs312262818
PheGenIrs312262818
Biobankrs312262818
1000 genomesrs312262818
hgdprs312262818
ensemblrs312262818
geneviewrs312262818
scholarrs312262818
googlers312262818
pharmgkbrs312262818
gwascentralrs312262818
openSNPrs312262818
23andMers312262818
SNPshotrs312262818
SNPdbers312262818
MSV3drs312262818
GWAS Ctlgrs312262818
Max Magnitude0
ClinVar
Risk rs312262818(G;G) rs312262818(T;T)
Alt rs312262818(G;G) rs312262818(T;T)
Reference Rs312262818(A;A)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754745A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034002.2,