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rs121434414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434414(A;G)
Make rs121434414(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position101215100
GenePLOD3
is asnp
is mentioned by
dbSNPrs121434414
ebirs121434414
HLIrs121434414
Exacrs121434414
Varsomers121434414
Maprs121434414
PheGenIrs121434414
hapmaprs121434414
1000 genomesrs121434414
hgdprs121434414
ensemblrs121434414
gopubmedrs121434414
geneviewrs121434414
scholarrs121434414
googlers121434414
pharmgkbrs121434414
gwascentralrs121434414
openSNPrs121434414
23andMers121434414
23andMe allrs121434414
SNP Nexus

SNPshotrs121434414
SNPdbers121434414
MSV3drs121434414
GWAS Ctlgrs121434414
Max Magnitude0
OMIM603066
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434414(G;G)
Alt rs121434414(G;G)
Reference rs121434414(A;A)
Significance Pathogenic
Disease Bone fragility with contractures
Variation info
Gene PLOD3
CLNDBN Bone fragility with contractures, arterial rupture, and deafness
Reversed 1
HGVS NC_000007.13:g.100858381T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007022.5,