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rs121434459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434459(C;T)
Make rs121434459(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position146071386
GenePLOD2
is asnp
is mentioned by
dbSNPrs121434459
ebirs121434459
HLIrs121434459
Exacrs121434459
Varsomers121434459
Maprs121434459
PheGenIrs121434459
hapmaprs121434459
1000 genomesrs121434459
hgdprs121434459
ensemblrs121434459
gopubmedrs121434459
geneviewrs121434459
scholarrs121434459
googlers121434459
pharmgkbrs121434459
gwascentralrs121434459
openSNPrs121434459
23andMers121434459
23andMe allrs121434459
SNP Nexus

SNPshotrs121434459
SNPdbers121434459
MSV3drs121434459
GWAS Ctlgrs121434459
Max Magnitude0
OMIM601865
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434459(T;T)
Alt rs121434459(T;T)
Reference rs121434459(C;C)
Significance Pathogenic
Disease Bruck syndrome 2
Variation info
Gene PLOD2
CLNDBN Bruck syndrome 2
Reversed 1
HGVS NC_000003.11:g.145789173G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008080.3,