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rs121434556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434556(A;A)
Make rs121434556(A;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position46008928
GeneMMP9
is asnp
is mentioned by
dbSNPrs121434556
dbSNP (classic)rs121434556
ClinGenrs121434556
ebirs121434556
HLIrs121434556
Exacrs121434556
Gnomadrs121434556
Varsomers121434556
LitVarrs121434556
Maprs121434556
PheGenIrs121434556
Biobankrs121434556
1000 genomesrs121434556
hgdprs121434556
ensemblrs121434556
geneviewrs121434556
scholarrs121434556
googlers121434556
pharmgkbrs121434556
gwascentralrs121434556
openSNPrs121434556
23andMers121434556
SNPshotrs121434556
SNPdbers121434556
MSV3drs121434556
GWAS Ctlgrs121434556
Max Magnitude0
OMIM120361
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434556(A;A) rs121434556(C;C)
Alt rs121434556(A;A) rs121434556(C;C)
Reference Rs121434556(T;T)
Significance Pathogenic
Disease Metaphyseal anadysplasia 2
Variation info
Gene MMP9
CLNDBN Metaphyseal anadysplasia 2, autosomal recessive
Reversed 0
HGVS NC_000020.10:g.44637567T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018642.28,