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rs193922239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922239(A;A)
Make rs193922239(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48415708
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922239
ebirs193922239
HLIrs193922239
Exacrs193922239
Varsomers193922239
Maprs193922239
PheGenIrs193922239
hapmaprs193922239
1000 genomesrs193922239
hgdprs193922239
ensemblrs193922239
gopubmedrs193922239
geneviewrs193922239
scholarrs193922239
googlers193922239
pharmgkbrs193922239
gwascentralrs193922239
openSNPrs193922239
23andMers193922239
23andMe allrs193922239
SNP Nexus

SNPshotrs193922239
SNPdbers193922239
MSV3drs193922239
GWAS Ctlgrs193922239
Max Magnitude0
ClinVar
Risk rs193922239(A;A)
Alt rs193922239(A;A)
Reference rs193922239(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48707905C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029784.1,


[PMID 879152] The effect of prolactin on canine pancreatic secretion. Implications on the pathogenesis of the pancreatitis of pregnancy.


[PMID 7977366OA-icon.png] A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.


[PMID 10633129OA-icon.png] The molecular genetics of Marfan syndrome and related microfibrillopathies.


[PMID 11826022OA-icon.png] Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.


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


[PMID 17568394] Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.