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

rs312262813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262813(A;C)
Make rs312262813(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13736590
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262813
ebirs312262813
HLIrs312262813
Exacrs312262813
Varsomers312262813
Maprs312262813
PheGenIrs312262813
hapmaprs312262813
1000 genomesrs312262813
hgdprs312262813
ensemblrs312262813
gopubmedrs312262813
geneviewrs312262813
scholarrs312262813
googlers312262813
pharmgkbrs312262813
gwascentralrs312262813
openSNPrs312262813
23andMers312262813
23andMe allrs312262813
SNP Nexus

SNPshotrs312262813
SNPdbers312262813
MSV3drs312262813
GWAS Ctlgrs312262813
Max Magnitude0
ClinVar
Risk rs312262813(C;C)
Alt rs312262813(C;C)
Reference rs312262813(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.13754709A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033994.2,