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rs121912954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912954(A;A)
Make rs121912954(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position55485677
GeneMMP2
is asnp
is mentioned by
dbSNPrs121912954
ebirs121912954
HLIrs121912954
Exacrs121912954
Varsomers121912954
Maprs121912954
PheGenIrs121912954
hapmaprs121912954
1000 genomesrs121912954
hgdprs121912954
ensemblrs121912954
gopubmedrs121912954
geneviewrs121912954
scholarrs121912954
googlers121912954
pharmgkbrs121912954
gwascentralrs121912954
openSNPrs121912954
23andMers121912954
23andMe allrs121912954
SNP Nexus

SNPshotrs121912954
SNPdbers121912954
MSV3drs121912954
GWAS Ctlgrs121912954
Max Magnitude0
OMIM120360
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912954(A;A)
Alt rs121912954(A;A)
Reference rs121912954(C;C)
Significance Pathogenic
Disease Multicentric osteolysis
Variation info
Gene MMP2
CLNDBN Multicentric osteolysis, nodulosis and arthropathy
Reversed 0
HGVS NC_000016.9:g.55519589C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018644.28,