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rs52826764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs52826764(A;A)
Make rs52826764(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position20005780
GeneMATN3
is asnp
is mentioned by
dbSNPrs52826764
dbSNP (classic)rs52826764
ClinGenrs52826764
ebirs52826764
HLIrs52826764
Exacrs52826764
Gnomadrs52826764
Varsomers52826764
LitVarrs52826764
Maprs52826764
PheGenIrs52826764
Biobankrs52826764
1000 genomesrs52826764
hgdprs52826764
ensemblrs52826764
geneviewrs52826764
scholarrs52826764
googlers52826764
pharmgkbrs52826764
gwascentralrs52826764
openSNPrs52826764
23andMers52826764
23andMe allrs52826764
SNPshotrs52826764
SNPdbers52826764
MSV3drs52826764
GWAS Ctlgrs52826764
Max Magnitude0

[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.


ClinVar
Risk rs52826764(A;A)
Alt rs52826764(A;A)
Reference Rs52826764(G;G)
Significance Probable-non-pathogenic
Disease not specified Multiple Epiphyseal Dysplasia
Variation info
Gene MATN3
CLNDBN not specified Multiple Epiphyseal Dysplasia, Dominant
Reversed 1
HGVS NC_000002.11:g.20205541C>T
CLNSRC
CLNACC RCV000242199.1, RCV000286603.1,