Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262817(C;T)
Make rs312262817(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736613
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262817
ebirs312262817
HLIrs312262817
Exacrs312262817
Varsomers312262817
Maprs312262817
PheGenIrs312262817
hapmaprs312262817
1000 genomesrs312262817
hgdprs312262817
ensemblrs312262817
gopubmedrs312262817
geneviewrs312262817
scholarrs312262817
googlers312262817
pharmgkbrs312262817
gwascentralrs312262817
openSNPrs312262817
23andMers312262817
23andMe allrs312262817
SNP Nexus

SNPshotrs312262817
SNPdbers312262817
MSV3drs312262817
GWAS Ctlgrs312262817
Max Magnitude0
ClinVar
Risk rs312262817(T;T)
Alt rs312262817(T;T)
Reference rs312262817(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.13754732C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034001.2,