Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434461(A;A)
Make rs121434461(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position146071416
GenePLOD2
is asnp
is mentioned by
dbSNPrs121434461
dbSNP (classic)rs121434461
ClinGenrs121434461
ebirs121434461
HLIrs121434461
Exacrs121434461
Gnomadrs121434461
Varsomers121434461
LitVarrs121434461
Maprs121434461
PheGenIrs121434461
Biobankrs121434461
1000 genomesrs121434461
hgdprs121434461
ensemblrs121434461
geneviewrs121434461
scholarrs121434461
googlers121434461
pharmgkbrs121434461
gwascentralrs121434461
openSNPrs121434461
23andMers121434461
SNPshotrs121434461
SNPdbers121434461
MSV3drs121434461
GWAS Ctlgrs121434461
Max Magnitude0
OMIM601865
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434461(A;A)
Alt rs121434461(A;A)
Reference Rs121434461(G;G)
Significance Pathogenic
Disease Bruck syndrome 2
Variation info
Gene PLOD2
CLNDBN Bruck syndrome 2
Reversed 1
HGVS NC_000003.11:g.145789203C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008082.2,