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rs104894948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894948(C;C)
Make rs104894948(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13716080
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs104894948
ebirs104894948
HLIrs104894948
Exacrs104894948
Varsomers104894948
Maprs104894948
PheGenIrs104894948
hapmaprs104894948
1000 genomesrs104894948
hgdprs104894948
ensemblrs104894948
gopubmedrs104894948
geneviewrs104894948
scholarrs104894948
googlers104894948
pharmgkbrs104894948
gwascentralrs104894948
openSNPrs104894948
23andMers104894948
23andMe allrs104894948
SNP Nexus

SNPshotrs104894948
SNPdbers104894948
MSV3drs104894948
GWAS Ctlgrs104894948
Max Magnitude0
OMIM300202
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894948(C;C)
Alt rs104894948(C;C)
Reference rs104894948(T;T)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734199A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012269.23,