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rs746032983

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746032983(C;T)
Make rs746032983(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position13734121
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs746032983
ebirs746032983
HLIrs746032983
Exacrs746032983
Varsomers746032983
Maprs746032983
PheGenIrs746032983
hapmaprs746032983
1000 genomesrs746032983
hgdprs746032983
ensemblrs746032983
gopubmedrs746032983
geneviewrs746032983
scholarrs746032983
googlers746032983
pharmgkbrs746032983
gwascentralrs746032983
openSNPrs746032983
23andMers746032983
23andMe allrs746032983
SNP Nexus

SNPshotrs746032983
SNPdbers746032983
MSV3drs746032983
GWAS Ctlgrs746032983
Max Magnitude0
ClinVar
Risk rs746032983(T;T)
Alt rs746032983(T;T)
Reference rs746032983(C;C)
Significance Probable-Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 0
HGVS NC_000023.10:g.13752240C>T
CLNSRC
CLNACC RCV000194298.1,