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rs397515546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515546(C;T)
Make rs397515546(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position20006175
GeneMATN3
is asnp
is mentioned by
dbSNPrs397515546
ebirs397515546
HLIrs397515546
Exacrs397515546
Varsomers397515546
Maprs397515546
PheGenIrs397515546
hapmaprs397515546
1000 genomesrs397515546
hgdprs397515546
ensemblrs397515546
gopubmedrs397515546
geneviewrs397515546
scholarrs397515546
googlers397515546
pharmgkbrs397515546
gwascentralrs397515546
openSNPrs397515546
23andMers397515546
23andMe allrs397515546
SNP Nexus

SNPshotrs397515546
SNPdbers397515546
MSV3drs397515546
GWAS Ctlgrs397515546
Max Magnitude0
ClinVar
Risk rs397515546(T;T)
Alt rs397515546(T;T)
Reference rs397515546(C;C)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 5
Variation info
Gene MATN3
CLNDBN Multiple epiphyseal dysplasia 5
Reversed 1
HGVS NC_000002.11:g.20205936G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055878.1,