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rs587776754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776754(-;-)
Make rs587776754(-;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13714443
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776754
ebirs587776754
HLIrs587776754
Exacrs587776754
Varsomers587776754
Maprs587776754
PheGenIrs587776754
hapmaprs587776754
1000 genomesrs587776754
hgdprs587776754
ensemblrs587776754
gopubmedrs587776754
geneviewrs587776754
scholarrs587776754
googlers587776754
pharmgkbrs587776754
gwascentralrs587776754
openSNPrs587776754
23andMers587776754
23andMe allrs587776754
SNP Nexus

SNPshotrs587776754
SNPdbers587776754
MSV3drs587776754
GWAS Ctlgrs587776754
Max Magnitude0
ClinVar
Risk rs587776754(TG,G;TG,G)
Alt rs587776754(TG,G;TG,G)
Reference rs587776754(AG;AG)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13732562delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012273.13,