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rs104893637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893637(C;T)
Make rs104893637(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position20006173
GeneMATN3
is asnp
is mentioned by
dbSNPrs104893637
ebirs104893637
HLIrs104893637
Exacrs104893637
Varsomers104893637
Maprs104893637
PheGenIrs104893637
hapmaprs104893637
1000 genomesrs104893637
hgdprs104893637
ensemblrs104893637
gopubmedrs104893637
geneviewrs104893637
scholarrs104893637
googlers104893637
pharmgkbrs104893637
gwascentralrs104893637
openSNPrs104893637
23andMers104893637
23andMe allrs104893637
SNP Nexus

SNPshotrs104893637
SNPdbers104893637
MSV3drs104893637
GWAS Ctlgrs104893637
Max Magnitude0
OMIM602109
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893637(T;T)
Alt rs104893637(T;T)
Reference rs104893637(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.20205934G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007977.2,