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rs587776749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
(TGG;TGG) 0 common in clinvar
Make rs587776749(-;-)
Make rs587776749(-;CA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13716580
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776749
ebirs587776749
HLIrs587776749
Exacrs587776749
Varsomers587776749
Maprs587776749
PheGenIrs587776749
hapmaprs587776749
1000 genomesrs587776749
hgdprs587776749
ensemblrs587776749
gopubmedrs587776749
geneviewrs587776749
scholarrs587776749
googlers587776749
pharmgkbrs587776749
gwascentralrs587776749
openSNPrs587776749
23andMers587776749
23andMe allrs587776749
SNP Nexus

SNPshotrs587776749
SNPdbers587776749
MSV3drs587776749
GWAS Ctlgrs587776749
Max Magnitude0
ClinVar
Risk rs587776749(CAG,G;CAG,G)
Alt rs587776749(CAG,G;CAG,G)
Reference rs587776749(TGG;TGG)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734699_13734700delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012264.25,