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rs797044754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044754(-;G)
Make rs797044754(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position102952038
GeneMMP13
is asnp
is mentioned by
dbSNPrs797044754
ClinGenrs797044754
ebirs797044754
HLIrs797044754
Exacrs797044754
Varsomers797044754
Maprs797044754
PheGenIrs797044754
hapmaprs797044754
1000 genomesrs797044754
hgdprs797044754
ensemblrs797044754
gopubmedrs797044754
geneviewrs797044754
scholarrs797044754
googlers797044754
pharmgkbrs797044754
gwascentralrs797044754
openSNPrs797044754
23andMers797044754
23andMe allrs797044754
SNP Nexus

SNPshotrs797044754
SNPdbers797044754
MSV3drs797044754
GWAS Ctlgrs797044754
Max Magnitude0
ClinVar
Risk rs797044754(G;G)
Alt rs797044754(G;G)
Reference Rs797044754(-;-)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia not provided
Variation info
Gene MMP13
CLNDBN Spondyloepimetaphyseal dysplasia, Missouri type not provided
Reversed 1
HGVS NC_000011.9:g.102822768dupC
CLNSRC
CLNACC RCV000178865.1, RCV000385539.1,