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rs587776748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
(TTG;TTG) 0 common in clinvar
Make rs587776748(-;-)
Make rs587776748(-;AA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13719910
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776748
ebirs587776748
HLIrs587776748
Exacrs587776748
Varsomers587776748
Maprs587776748
PheGenIrs587776748
hapmaprs587776748
1000 genomesrs587776748
hgdprs587776748
ensemblrs587776748
gopubmedrs587776748
geneviewrs587776748
scholarrs587776748
googlers587776748
pharmgkbrs587776748
gwascentralrs587776748
openSNPrs587776748
23andMers587776748
23andMe allrs587776748
SNP Nexus

SNPshotrs587776748
SNPdbers587776748
MSV3drs587776748
GWAS Ctlgrs587776748
Max Magnitude0
ClinVar
Risk rs587776748(AAG,G;AAG,G)
Alt rs587776748(AAG,G;AAG,G)
Reference rs587776748(TTG;TTG)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13738029_13738030delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012263.13,