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rs794727275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727275(-;-)
Make rs794727275(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position55483020
GeneMMP2
is asnp
is mentioned by
dbSNPrs794727275
dbSNP (classic)rs794727275
ClinGenrs794727275
ebirs794727275
HLIrs794727275
Exacrs794727275
Gnomadrs794727275
Varsomers794727275
LitVarrs794727275
Maprs794727275
PheGenIrs794727275
Biobankrs794727275
1000 genomesrs794727275
hgdprs794727275
ensemblrs794727275
geneviewrs794727275
scholarrs794727275
googlers794727275
pharmgkbrs794727275
gwascentralrs794727275
openSNPrs794727275
23andMers794727275
SNPshotrs794727275
SNPdbers794727275
MSV3drs794727275
GWAS Ctlgrs794727275
Max Magnitude0
ClinVar
Risk rs794727275(-;-)
Alt rs794727275(-;-)
Reference Rs794727275(C;C)
Significance Pathogenic
Disease Multicentric osteolysis
Variation info
Gene MMP2
CLNDBN Multicentric osteolysis, nodulosis and arthropathy
Reversed 0
HGVS NC_000016.9:g.55516932delC
CLNSRC
CLNACC RCV000175786.1,