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rs587776752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776752(C;T)
Make rs587776752(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13719866
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776752
ebirs587776752
HLIrs587776752
Exacrs587776752
Varsomers587776752
Maprs587776752
PheGenIrs587776752
hapmaprs587776752
1000 genomesrs587776752
hgdprs587776752
ensemblrs587776752
gopubmedrs587776752
geneviewrs587776752
scholarrs587776752
googlers587776752
pharmgkbrs587776752
gwascentralrs587776752
openSNPrs587776752
23andMers587776752
23andMe allrs587776752
SNP Nexus

SNPshotrs587776752
SNPdbers587776752
MSV3drs587776752
GWAS Ctlgrs587776752
Max Magnitude0
ClinVar
Risk rs587776752(C,T;C,T)
Alt rs587776752(C,T;C,T)
Reference rs587776752(G;G)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13737985C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012268.12,