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rs2228048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2228048(C;T)
Make rs2228048(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672350
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs2228048
ebirs2228048
HLIrs2228048
Exacrs2228048
Varsomers2228048
Maprs2228048
PheGenIrs2228048
hapmaprs2228048
1000 genomesrs2228048
hgdprs2228048
ensemblrs2228048
gopubmedrs2228048
geneviewrs2228048
scholarrs2228048
googlers2228048
pharmgkbrs2228048
gwascentralrs2228048
openSNPrs2228048
23andMers2228048
23andMe allrs2228048
SNP Nexus

SNPshotrs2228048
SNPdbers2228048
MSV3drs2228048
GWAS Ctlgrs2228048
GMAF0.08356
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 21609163] Association between TGFBR2 Gene Polymorphism (rs2228048, Asn389Asn) and Intracerebral Hemorrhage in Korean Population


[PMID 21917900] Genetic Variations and Interactions in Anti-inflammatory Cytokine Pathway Genes in the Outcome of Leprosy: A Study Conducted on a MassARRAY Platform


[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 18095113] Mutational analysis of transforming growth factor-beta receptor type II and Smad3 tumor suppressor genes in prolactinomas.


[PMID 19091845OA-icon.png] No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation.


[PMID 19299629OA-icon.png] Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.


[PMID 23883197] Association between a TGFBR2 Gene Polymorphism (rs2228048, Asn389Asn) and Acute Rejection in Korean Kidney Transplantation Recipients


ClinVar
Risk rs2228048(T;T)
Alt rs2228048(T;T)
Reference rs2228048(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TGFBR2
CLNDBN not specified
Reversed 0
HGVS NC_000003.11:g.30713842C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000037729.4,