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rs193922224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922224(G;G)
Make rs193922224(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48537698
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922224
ebirs193922224
HLIrs193922224
Exacrs193922224
Varsomers193922224
Maprs193922224
PheGenIrs193922224
hapmaprs193922224
1000 genomesrs193922224
hgdprs193922224
ensemblrs193922224
gopubmedrs193922224
geneviewrs193922224
scholarrs193922224
googlers193922224
pharmgkbrs193922224
gwascentralrs193922224
openSNPrs193922224
23andMers193922224
23andMe allrs193922224
SNP Nexus

SNPshotrs193922224
SNPdbers193922224
MSV3drs193922224
GWAS Ctlgrs193922224
Max Magnitude0
ClinVar
Risk rs193922224(G;G)
Alt rs193922224(G;G)
Reference rs193922224(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48829895A>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029763.1,


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


[PMID 8136837] Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.


[PMID 8791520] Fibrillln mutations in Marfan syndrome and related phenotypes.


[PMID 11143906] Marfan syndrome and fibrillin disorders.


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


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