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rs312262808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262808(A;A)
Make rs312262808(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13735346
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs312262808
ebirs312262808
HLIrs312262808
Exacrs312262808
Varsomers312262808
Maprs312262808
PheGenIrs312262808
hapmaprs312262808
1000 genomesrs312262808
hgdprs312262808
ensemblrs312262808
gopubmedrs312262808
geneviewrs312262808
scholarrs312262808
googlers312262808
pharmgkbrs312262808
gwascentralrs312262808
openSNPrs312262808
23andMers312262808
23andMe allrs312262808
SNP Nexus

SNPshotrs312262808
SNPdbers312262808
MSV3drs312262808
GWAS Ctlgrs312262808
Max Magnitude0
ClinVar
Risk rs312262808(A,C;A,C)
Alt rs312262808(A,C;A,C)
Reference rs312262808(G;G)
Significance Pathogenic
Disease Oral-facial-digital syndrome
Variation info
Gene TRAPPC2 OFD1
CLNDBN Oral-facial-digital syndrome
Reversed 0
HGVS NC_000023.10:g.13753465G>A; NC_000023.10:g.13753465G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033959.2, RCV000033960.2,