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rs122460156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122460156(C;T)
Make rs122460156(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position13714439
GeneTRAPPC2
is asnp
is mentioned by
dbSNPrs122460156
ebirs122460156
HLIrs122460156
Exacrs122460156
Varsomers122460156
Maprs122460156
PheGenIrs122460156
hapmaprs122460156
1000 genomesrs122460156
hgdprs122460156
ensemblrs122460156
gopubmedrs122460156
geneviewrs122460156
scholarrs122460156
googlers122460156
pharmgkbrs122460156
gwascentralrs122460156
openSNPrs122460156
23andMers122460156
23andMe allrs122460156
SNP Nexus

SNPshotrs122460156
SNPdbers122460156
MSV3drs122460156
GWAS Ctlgrs122460156
Max Magnitude0
OMIM300202
Desc
Variant0008
Relatedalso
ClinVar
Risk rs122460156(T;T)
Alt rs122460156(T;T)
Reference rs122460156(C;C)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13732558G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012270.25,