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rs281865483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865483(-;-)
Make rs281865483(-;GCTGCTGCT)
Make rs281865483(GCTGCTGCT;GCTGCTGCT)
ReferenceGRCh38 38.1/141
Chromosome19
Position41353006
GeneTGFB1
is asnp
is mentioned by
dbSNPrs281865483
ebirs281865483
HLIrs281865483
Exacrs281865483
Varsomers281865483
Maprs281865483
PheGenIrs281865483
hapmaprs281865483
1000 genomesrs281865483
hgdprs281865483
ensemblrs281865483
gopubmedrs281865483
geneviewrs281865483
scholarrs281865483
googlers281865483
pharmgkbrs281865483
gwascentralrs281865483
openSNPrs281865483
23andMers281865483
23andMe allrs281865483
SNP Nexus

SNPshotrs281865483
SNPdbers281865483
MSV3drs281865483
GWAS Ctlgrs281865483
Max Magnitude0
ClinVar
Risk rs281865483(GCTGCTGCT;GCTGCTGCT)
Alt rs281865483(GCTGCTGCT;GCTGCTGCT)
Reference rs281865483(;)
Significance Pathogenic
Disease Diaphyseal dysplasia
Variation info
Gene TGFB1
CLNDBN Diaphyseal dysplasia
Reversed 1
HGVS NC_000019.10:g.41353007_41353015dupAGCAGCAGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032142.1,