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rs104894720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894720(A;A)
Make rs104894720(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41342229
GeneTGFB1
is asnp
is mentioned by
dbSNPrs104894720
ebirs104894720
HLIrs104894720
Exacrs104894720
Varsomers104894720
Maprs104894720
PheGenIrs104894720
hapmaprs104894720
1000 genomesrs104894720
hgdprs104894720
ensemblrs104894720
gopubmedrs104894720
geneviewrs104894720
scholarrs104894720
googlers104894720
pharmgkbrs104894720
gwascentralrs104894720
openSNPrs104894720
23andMers104894720
23andMe allrs104894720
SNP Nexus

SNPshotrs104894720
SNPdbers104894720
MSV3drs104894720
GWAS Ctlgrs104894720
Max Magnitude0
OMIM190180
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894720(A;A)
Alt rs104894720(A;A)
Reference rs104894720(G;G)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41848134C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013355.23,