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rs28939677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28939677(A;A)
Make rs28939677(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position20005878
GeneMATN3
is asnp
is mentioned by
dbSNPrs28939677
ebirs28939677
HLIrs28939677
Exacrs28939677
Varsomers28939677
Maprs28939677
PheGenIrs28939677
hapmaprs28939677
1000 genomesrs28939677
hgdprs28939677
ensemblrs28939677
gopubmedrs28939677
geneviewrs28939677
scholarrs28939677
googlers28939677
pharmgkbrs28939677
gwascentralrs28939677
openSNPrs28939677
23andMers28939677
23andMe allrs28939677
SNP Nexus

SNPshotrs28939677
SNPdbers28939677
MSV3drs28939677
GWAS Ctlgrs28939677
Max Magnitude0
OMIM602109
DescMULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED
Variant0004
Relatedalso


ClinVar
Risk rs28939677(A;A)
Alt rs28939677(A;A)
Reference rs28939677(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.20205639G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007979.2,