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rs587776753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776753(A;G)
Make rs587776753(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13716530
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776753
ebirs587776753
HLIrs587776753
Exacrs587776753
Varsomers587776753
Maprs587776753
PheGenIrs587776753
hapmaprs587776753
1000 genomesrs587776753
hgdprs587776753
ensemblrs587776753
gopubmedrs587776753
geneviewrs587776753
scholarrs587776753
googlers587776753
pharmgkbrs587776753
gwascentralrs587776753
openSNPrs587776753
23andMers587776753
23andMe allrs587776753
SNP Nexus

SNPshotrs587776753
SNPdbers587776753
MSV3drs587776753
GWAS Ctlgrs587776753
Max Magnitude0
ClinVar
Risk rs587776753(A,G;A,G)
Alt rs587776753(A,G;A,G)
Reference rs587776753(T;T)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734649A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012272.12,