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rs112084407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112084407(A;A)
Make rs112084407(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48432905
GeneFBN1
is asnp
is mentioned by
dbSNPrs112084407
ebirs112084407
HLIrs112084407
Exacrs112084407
Varsomers112084407
Maprs112084407
PheGenIrs112084407
hapmaprs112084407
1000 genomesrs112084407
hgdprs112084407
ensemblrs112084407
gopubmedrs112084407
geneviewrs112084407
scholarrs112084407
googlers112084407
pharmgkbrs112084407
gwascentralrs112084407
openSNPrs112084407
23andMers112084407
23andMe allrs112084407
SNP Nexus

SNPshotrs112084407
SNPdbers112084407
MSV3drs112084407
GWAS Ctlgrs112084407
Max Magnitude0
ClinVar
Risk rs112084407(A;A)
Alt rs112084407(A;A)
Reference rs112084407(G;G)
Significance Other
Disease Marfan syndrome not specified
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified
Reversed 1
HGVS NC_000015.9:g.48725102C>T
CLNSRC ClinVar LabCorp University of Washington
CLNACC RCV000029766.3, RCV000035252.3,


[PMID 17253931] Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.


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


[PMID 17663468] Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.