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rs794727916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727916(-;-)
Make rs794727916(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position55491907
GeneMMP2
is asnp
is mentioned by
dbSNPrs794727916
dbSNP (classic)rs794727916
ClinGenrs794727916
ebirs794727916
HLIrs794727916
Exacrs794727916
Gnomadrs794727916
Varsomers794727916
LitVarrs794727916
Maprs794727916
PheGenIrs794727916
Biobankrs794727916
1000 genomesrs794727916
hgdprs794727916
ensemblrs794727916
geneviewrs794727916
scholarrs794727916
googlers794727916
pharmgkbrs794727916
gwascentralrs794727916
openSNPrs794727916
23andMers794727916
SNPshotrs794727916
SNPdbers794727916
MSV3drs794727916
GWAS Ctlgrs794727916
Max Magnitude0
ClinVar
Risk rs794727916(-;-)
Alt rs794727916(-;-)
Reference Rs794727916(G;G)
Significance Pathogenic
Disease Multicentric osteolysis
Variation info
Gene MMP2
CLNDBN Multicentric osteolysis, nodulosis and arthropathy
Reversed 0
HGVS NC_000016.9:g.55525819delG
CLNSRC
CLNACC RCV000180261.1,