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rs121912953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912953(A;A)
Make rs121912953(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position55483057
GeneMMP2
is asnp
is mentioned by
dbSNPrs121912953
ebirs121912953
HLIrs121912953
Exacrs121912953
Varsomers121912953
Maprs121912953
PheGenIrs121912953
hapmaprs121912953
1000 genomesrs121912953
hgdprs121912953
ensemblrs121912953
gopubmedrs121912953
geneviewrs121912953
scholarrs121912953
googlers121912953
pharmgkbrs121912953
gwascentralrs121912953
openSNPrs121912953
23andMers121912953
23andMe allrs121912953
SNP Nexus

SNPshotrs121912953
SNPdbers121912953
MSV3drs121912953
GWAS Ctlgrs121912953
Max Magnitude0
OMIM120360
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912953(A;A)
Alt rs121912953(A;A)
Reference rs121912953(G;G)
Significance Pathogenic
Disease Multicentric osteolysis
Variation info
Gene MMP2
CLNDBN Multicentric osteolysis, nodulosis and arthropathy
Reversed 0
HGVS NC_000016.9:g.55516969G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018643.29,