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rs104893639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893639(A;A)
Make rs104893639(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position20003167
GeneAC079145.4, MATN3
is asnp
is mentioned by
dbSNPrs104893639
ebirs104893639
HLIrs104893639
Exacrs104893639
Varsomers104893639
Maprs104893639
PheGenIrs104893639
hapmaprs104893639
1000 genomesrs104893639
hgdprs104893639
ensemblrs104893639
gopubmedrs104893639
geneviewrs104893639
scholarrs104893639
googlers104893639
pharmgkbrs104893639
gwascentralrs104893639
openSNPrs104893639
23andMers104893639
23andMe allrs104893639
SNP Nexus

SNPshotrs104893639
SNPdbers104893639
MSV3drs104893639
GWAS Ctlgrs104893639
Max Magnitude0
OMIM602109
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893639(A;A)
Alt rs104893639(A;A)
Reference Rs104893639(T;T)
Significance Pathogenic
Disease SPONDYLOEPIMETAPHYSEAL DYSPLASIA Spondyloepimetaphyseal dysplasia Matrilin-3 related
Variation info
Gene LOC101928222 MATN3
CLNDBN SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED Spondyloepimetaphyseal dysplasia Matrilin-3 related
Reversed 1
HGVS NC_000002.11:g.20202928A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007980.3, RCV000055879.1,