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rs193922228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922228(C;C)
Make rs193922228(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48430736
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922228
ebirs193922228
HLIrs193922228
Exacrs193922228
Varsomers193922228
Maprs193922228
PheGenIrs193922228
hapmaprs193922228
1000 genomesrs193922228
hgdprs193922228
ensemblrs193922228
gopubmedrs193922228
geneviewrs193922228
scholarrs193922228
googlers193922228
pharmgkbrs193922228
gwascentralrs193922228
openSNPrs193922228
23andMers193922228
23andMe allrs193922228
SNP Nexus

SNPshotrs193922228
SNPdbers193922228
MSV3drs193922228
GWAS Ctlgrs193922228
Max Magnitude0
ClinVar
Risk rs193922228(C;C)
Alt rs193922228(C;C)
Reference rs193922228(T;T)
Significance Other
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48722933A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029769.4,


[PMID 16342] Cardiac pacemaking: an obligatory role of catecholamines?


[PMID 10464652] Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.


[PMID 12203992] TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.


[PMID 12938084] Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.


[PMID 17657824] The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.


[PMID 19159394] Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.