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rs104893645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893645(A;A)
Make rs104893645(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position20005953
GeneMATN3
is asnp
is mentioned by
dbSNPrs104893645
ebirs104893645
HLIrs104893645
Exacrs104893645
Varsomers104893645
Maprs104893645
PheGenIrs104893645
hapmaprs104893645
1000 genomesrs104893645
hgdprs104893645
ensemblrs104893645
gopubmedrs104893645
geneviewrs104893645
scholarrs104893645
googlers104893645
pharmgkbrs104893645
gwascentralrs104893645
openSNPrs104893645
23andMers104893645
23andMe allrs104893645
SNP Nexus

SNPshotrs104893645
SNPdbers104893645
MSV3drs104893645
GWAS Ctlgrs104893645
Max Magnitude0
OMIM602109
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893645(A;A)
Alt rs104893645(A;A)
Reference rs104893645(T;T)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 5
Variation info
Gene MATN3
CLNDBN Multiple epiphyseal dysplasia 5
Reversed 1
HGVS NC_000002.11:g.20205714A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007976.3,