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rs193921256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193921256(A;A)
Make rs193921256(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495575
GeneFBN1
is asnp
is mentioned by
dbSNPrs193921256
ebirs193921256
HLIrs193921256
Exacrs193921256
Varsomers193921256
Maprs193921256
PheGenIrs193921256
hapmaprs193921256
1000 genomesrs193921256
hgdprs193921256
ensemblrs193921256
gopubmedrs193921256
geneviewrs193921256
scholarrs193921256
googlers193921256
pharmgkbrs193921256
gwascentralrs193921256
openSNPrs193921256
23andMers193921256
23andMe allrs193921256
SNP Nexus

SNPshotrs193921256
SNPdbers193921256
MSV3drs193921256
GWAS Ctlgrs193921256
Max Magnitude0
ClinVar
Risk rs193921256(A,T;A,T)
Alt rs193921256(A,T;A,T)
Reference rs193921256(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48787772G>A; NC_000015.9:g.48787772G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029710.1, RCV000029709.1,


[PMID 19328768] Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.


[PMID 19839986] Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.