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rs104894722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894722(C;C)
Make rs104894722(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position41342215
GeneTGFB1
is asnp
is mentioned by
dbSNPrs104894722
ebirs104894722
HLIrs104894722
Exacrs104894722
Varsomers104894722
Maprs104894722
PheGenIrs104894722
hapmaprs104894722
1000 genomesrs104894722
hgdprs104894722
ensemblrs104894722
gopubmedrs104894722
geneviewrs104894722
scholarrs104894722
googlers104894722
pharmgkbrs104894722
gwascentralrs104894722
openSNPrs104894722
23andMers104894722
23andMe allrs104894722
SNP Nexus

SNPshotrs104894722
SNPdbers104894722
MSV3drs104894722
GWAS Ctlgrs104894722
Merged fromRs28934268
Max Magnitude0
OMIM190180
Desc
Variant0005
Relatedalso
OMIM190180
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894722(A,C,G;A,C,G)
Alt rs104894722(A,C,G;A,C,G)
Reference rs104894722(T;T)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.9:g.41848120A>C; NC_000019.9:g.41848120A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013356.25, RCV000013359.25,