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

rs587777330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATT;ATT) 0 common in clinvar
Make rs587777330(-;-)
Make rs587777330(-;ATT)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13716098
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587777330
ebirs587777330
HLIrs587777330
Exacrs587777330
Varsomers587777330
Maprs587777330
PheGenIrs587777330
hapmaprs587777330
1000 genomesrs587777330
hgdprs587777330
ensemblrs587777330
gopubmedrs587777330
geneviewrs587777330
scholarrs587777330
googlers587777330
pharmgkbrs587777330
gwascentralrs587777330
openSNPrs587777330
23andMers587777330
23andMe allrs587777330
SNP Nexus

SNPshotrs587777330
SNPdbers587777330
MSV3drs587777330
GWAS Ctlgrs587777330
Max Magnitude0
ClinVar
Risk rs587777330(ATTT,T;ATTT,T)
Alt rs587777330(ATTT,T;ATTT,T)
Reference rs587777330(AATT;AATT)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734217_13734219delATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000114971.2,