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rs312262816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262816(C;G)
Make rs312262816(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736609
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262816
ebirs312262816
HLIrs312262816
Exacrs312262816
Varsomers312262816
Maprs312262816
PheGenIrs312262816
hapmaprs312262816
1000 genomesrs312262816
hgdprs312262816
ensemblrs312262816
gopubmedrs312262816
geneviewrs312262816
scholarrs312262816
googlers312262816
pharmgkbrs312262816
gwascentralrs312262816
openSNPrs312262816
23andMers312262816
23andMe allrs312262816
SNP Nexus

SNPshotrs312262816
SNPdbers312262816
MSV3drs312262816
GWAS Ctlgrs312262816
Max Magnitude0
ClinVar
Risk rs312262816(G;G)
Alt rs312262816(G;G)
Reference rs312262816(C;C)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13754728C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034000.2,