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rs28939676

From SNPedia

Merged intors77245812
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
Make rs28939676(C;T)
Make rs28939676(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position20003169
GeneAC079145.4, MATN3
is asnp
is mentioned by
dbSNPrs28939676
ebirs28939676
HLIrs28939676
Exacrs28939676
Varsomers28939676
Maprs28939676
PheGenIrs28939676
hapmaprs28939676
1000 genomesrs28939676
hgdprs28939676
ensemblrs28939676
gopubmedrs28939676
geneviewrs28939676
scholarrs28939676
googlers28939676
pharmgkbrs28939676
gwascentralrs28939676
openSNPrs28939676
23andMers28939676
23andMe allrs28939676
SNP Nexus

SNPshotrs28939676
SNPdbers28939676
MSV3drs28939676
GWAS Ctlgrs28939676
StatusMerged into rs77245812
Max Magnitude0
OMIM602109
DescHAND OSTEOARTHRITIS, SUSCEPTIBILITY TO
Variant0003
Relatedalso
GET Evidence
MATN3-T303M
aa_change Thr303Met
aa_change_short T303M
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0106698
summary An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis.