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rs193922660

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922660(A;G)
Make rs193922660(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672334
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs193922660
ebirs193922660
HLIrs193922660
Exacrs193922660
Varsomers193922660
Maprs193922660
PheGenIrs193922660
hapmaprs193922660
1000 genomesrs193922660
hgdprs193922660
ensemblrs193922660
gopubmedrs193922660
geneviewrs193922660
scholarrs193922660
googlers193922660
pharmgkbrs193922660
gwascentralrs193922660
openSNPrs193922660
23andMers193922660
23andMe allrs193922660
SNP Nexus

SNPshotrs193922660
SNPdbers193922660
MSV3drs193922660
GWAS Ctlgrs193922660
Max Magnitude0
ClinVar
Risk rs193922660(G;G)
Alt rs193922660(G;G)
Reference rs193922660(A;A)
Significance Probable-Pathogenic
Disease Loeys-Dietz syndrome
Variation info
Gene TGFBR2
CLNDBN Loeys-Dietz syndrome
Reversed 0
HGVS NC_000003.11:g.30713826A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030542.1,


[PMID 16799921] TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.


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


[PMID 17061023] Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.


[PMID 17935258] A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.