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rs104894949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894949(A;A)
Make rs104894949(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13714501
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs104894949
ebirs104894949
HLIrs104894949
Exacrs104894949
Varsomers104894949
Maprs104894949
PheGenIrs104894949
hapmaprs104894949
1000 genomesrs104894949
hgdprs104894949
ensemblrs104894949
gopubmedrs104894949
geneviewrs104894949
scholarrs104894949
googlers104894949
pharmgkbrs104894949
gwascentralrs104894949
openSNPrs104894949
23andMers104894949
23andMe allrs104894949
SNP Nexus

SNPshotrs104894949
SNPdbers104894949
MSV3drs104894949
GWAS Ctlgrs104894949
Max Magnitude0
OMIM300202
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894949(A;A)
Alt rs104894949(A;A)
Reference rs104894949(C;C)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13732620G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012271.13,