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rs121434460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434460(G;T)
Make rs121434460(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position146071407
GenePLOD2
is asnp
is mentioned by
dbSNPrs121434460
ebirs121434460
HLIrs121434460
Exacrs121434460
Varsomers121434460
Maprs121434460
PheGenIrs121434460
hapmaprs121434460
1000 genomesrs121434460
hgdprs121434460
ensemblrs121434460
gopubmedrs121434460
geneviewrs121434460
scholarrs121434460
googlers121434460
pharmgkbrs121434460
gwascentralrs121434460
openSNPrs121434460
23andMers121434460
23andMe allrs121434460
SNP Nexus

SNPshotrs121434460
SNPdbers121434460
MSV3drs121434460
GWAS Ctlgrs121434460
Max Magnitude0
OMIM601865
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434460(T;T)
Alt rs121434460(T;T)
Reference rs121434460(G;G)
Significance Pathogenic
Disease Bruck syndrome 2
Variation info
Gene PLOD2
CLNDBN Bruck syndrome 2
Reversed 1
HGVS NC_000003.11:g.145789194C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008081.2,