Have questions? Visit https://www.reddit.com/r/SNPedia

rs111854391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111854391(C;T)
Make rs111854391(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position99138006
GeneTGFBR1
is asnp
is mentioned by
dbSNPrs111854391
ebirs111854391
HLIrs111854391
Exacrs111854391
Varsomers111854391
Maprs111854391
PheGenIrs111854391
hapmaprs111854391
1000 genomesrs111854391
hgdprs111854391
ensemblrs111854391
gopubmedrs111854391
geneviewrs111854391
scholarrs111854391
googlers111854391
pharmgkbrs111854391
gwascentralrs111854391
openSNPrs111854391
23andMers111854391
23andMe allrs111854391
SNP Nexus

SNPshotrs111854391
SNPdbers111854391
MSV3drs111854391
GWAS Ctlgrs111854391
Max Magnitude0
OMIM190181
Desc
Variant0005
Relatedalso
ClinVar
Risk rs111854391(T;T)
Alt rs111854391(T;T)
Reference rs111854391(C;C)
Significance Pathogenic
Disease Loeys-Dietz syndrome 1 Loeys-Dietz syndrome
Variation info
Gene TGFBR1
CLNDBN Loeys-Dietz syndrome 1 Loeys-Dietz syndrome
Reversed 0
HGVS NC_000009.11:g.101900288C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013350.24, RCV000030540.1,


[PMID 16596670] FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.


[PMID 16791849] Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.


[PMID 16928994] Aneurysm syndromes caused by mutations in the TGF-beta receptor.


[PMID 18781618] Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.