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rs104893640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893640(A;A)
Make rs104893640(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position20012423
GeneMATN3
is asnp
is mentioned by
dbSNPrs104893640
ebirs104893640
HLIrs104893640
Exacrs104893640
Varsomers104893640
Maprs104893640
PheGenIrs104893640
hapmaprs104893640
1000 genomesrs104893640
hgdprs104893640
ensemblrs104893640
gopubmedrs104893640
geneviewrs104893640
scholarrs104893640
googlers104893640
pharmgkbrs104893640
gwascentralrs104893640
openSNPrs104893640
23andMers104893640
23andMe allrs104893640
SNP Nexus

SNPshotrs104893640
SNPdbers104893640
MSV3drs104893640
GWAS Ctlgrs104893640
Max Magnitude0
OMIM602109
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893640(A;A)
Alt rs104893640(A;A)
Reference rs104893640(G;G)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 5 Multiple Epiphyseal Dysplasia
Variation info
Gene MATN3
CLNDBN Multiple epiphyseal dysplasia 5 Multiple Epiphyseal Dysplasia, Dominant
Reversed 1
HGVS NC_000002.11:g.20212184C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007981.2, RCV000055877.1,