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rs104893641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893641(C;C)
Make rs104893641(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position20006152
GeneMATN3
is asnp
is mentioned by
dbSNPrs104893641
ebirs104893641
HLIrs104893641
Exacrs104893641
Varsomers104893641
Maprs104893641
PheGenIrs104893641
hapmaprs104893641
1000 genomesrs104893641
hgdprs104893641
ensemblrs104893641
gopubmedrs104893641
geneviewrs104893641
scholarrs104893641
googlers104893641
pharmgkbrs104893641
gwascentralrs104893641
openSNPrs104893641
23andMers104893641
23andMe allrs104893641
SNP Nexus

SNPshotrs104893641
SNPdbers104893641
MSV3drs104893641
GWAS Ctlgrs104893641
Max Magnitude0
OMIM602109
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893641(C;C)
Alt rs104893641(C;C)
Reference rs104893641(G;G)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 5
Variation info
Gene MATN3
CLNDBN Multiple epiphyseal dysplasia 5
Reversed 1
HGVS NC_000002.11:g.20205913C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007982.3,