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rs104894719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894719(C;C)
Make rs104894719(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41342209
GeneTGFB1
is asnp
is mentioned by
dbSNPrs104894719
ebirs104894719
HLIrs104894719
Exacrs104894719
Varsomers104894719
Maprs104894719
PheGenIrs104894719
hapmaprs104894719
1000 genomesrs104894719
hgdprs104894719
ensemblrs104894719
gopubmedrs104894719
geneviewrs104894719
scholarrs104894719
googlers104894719
pharmgkbrs104894719
gwascentralrs104894719
openSNPrs104894719
23andMers104894719
23andMe allrs104894719
SNP Nexus

SNPshotrs104894719
SNPdbers104894719
MSV3drs104894719
GWAS Ctlgrs104894719
Max Magnitude0
OMIM190180
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894719(C;C)
Alt rs104894719(C;C)
Reference rs104894719(T;T)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41848114A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013354.24,