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rs121912955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912955(A;A)
Make rs121912955(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position55491830
GeneMMP2
is asnp
is mentioned by
dbSNPrs121912955
dbSNP (classic)rs121912955
ClinGenrs121912955
ebirs121912955
HLIrs121912955
Exacrs121912955
Gnomadrs121912955
Varsomers121912955
LitVarrs121912955
Maprs121912955
PheGenIrs121912955
Biobankrs121912955
1000 genomesrs121912955
hgdprs121912955
ensemblrs121912955
geneviewrs121912955
scholarrs121912955
googlers121912955
pharmgkbrs121912955
gwascentralrs121912955
openSNPrs121912955
23andMers121912955
SNPshotrs121912955
SNPdbers121912955
MSV3drs121912955
GWAS Ctlgrs121912955
Max Magnitude0
OMIM120360
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912955(A;A)
Alt rs121912955(A;A)
Reference Rs121912955(G;G)
Significance Pathogenic
Disease Multicentric osteolysis
Variation info
Gene MMP2
CLNDBN Multicentric osteolysis, nodulosis and arthropathy
Reversed 0
HGVS NC_000016.9:g.55525742G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018645.28,