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rs104894721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894721(C;T)
Make rs104894721(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41342230
GeneTGFB1
is asnp
is mentioned by
dbSNPrs104894721
ebirs104894721
HLIrs104894721
Exacrs104894721
Varsomers104894721
Maprs104894721
PheGenIrs104894721
hapmaprs104894721
1000 genomesrs104894721
hgdprs104894721
ensemblrs104894721
gopubmedrs104894721
geneviewrs104894721
scholarrs104894721
googlers104894721
pharmgkbrs104894721
gwascentralrs104894721
openSNPrs104894721
23andMers104894721
23andMe allrs104894721
SNP Nexus

SNPshotrs104894721
SNPdbers104894721
MSV3drs104894721
GWAS Ctlgrs104894721
Max Magnitude0
OMIM190180
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894721(T;T)
Alt rs104894721(T;T)
Reference rs104894721(C;C)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41848135G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013357.17,