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rs1800468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800468(A;A)
Make rs1800468(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position41354682
GeneB9D2, TGFB1
is asnp
is mentioned by
dbSNPrs1800468
dbSNP (classic)rs1800468
ClinGenrs1800468
ebirs1800468
HLIrs1800468
Exacrs1800468
Gnomadrs1800468
Varsomers1800468
LitVarrs1800468
Maprs1800468
PheGenIrs1800468
Biobankrs1800468
1000 genomesrs1800468
hgdprs1800468
ensemblrs1800468
geneviewrs1800468
scholarrs1800468
googlers1800468
pharmgkbrs1800468
gwascentralrs1800468
openSNPrs1800468
23andMers1800468
SNPshotrs1800468
SNPdbers1800468
MSV3drs1800468
GWAS Ctlgrs1800468
GMAF0.04132
Max Magnitude0


[PMID 17059371] Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women.


[PMID 17319955OA-icon.png] Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.


[PMID 18284942] Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 19258388OA-icon.png] Genetic variation in the transforming growth factor-beta1 gene is associated with susceptibility to IgA nephropathy.


[PMID 23597094OA-icon.png] Gene-environment interaction between body mass index and transforming growth factor beta 1 (TGFbeta1) gene in knee and hip osteoarthritis


[PMID 23416372] Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss


ClinVar
Risk rs1800468(A;A)
Alt rs1800468(A;A)
Reference Rs1800468(G;G)
Significance Probable-non-pathogenic
Disease not specified Meckel-Gruber syndrome
Variation info
Gene B9D2 TMEM91 TGFB1
CLNDBN not specified Meckel-Gruber syndrome
Reversed 1
HGVS NC_000019.9:g.41860587C>T
CLNSRC
CLNACC RCV000250644.1, RCV000394296.1,



[PMID 33274798OA-icon.png] TGFB1 polymorphisms and TGF-β1 plasma levels identify gastric adenocarcinoma patients with lower survival rate and disseminated disease.