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rs61746008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs61746008(A;A)
Make rs61746008(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48412619
GeneFBN1
is asnp
is mentioned by
dbSNPrs61746008
ebirs61746008
HLIrs61746008
Exacrs61746008
Varsomers61746008
Maprs61746008
PheGenIrs61746008
hapmaprs61746008
1000 genomesrs61746008
hgdprs61746008
ensemblrs61746008
gopubmedrs61746008
geneviewrs61746008
scholarrs61746008
googlers61746008
pharmgkbrs61746008
gwascentralrs61746008
openSNPrs61746008
23andMers61746008
23andMe allrs61746008
SNP Nexus

SNPshotrs61746008
SNPdbers61746008
MSV3drs61746008
GWAS Ctlgrs61746008
GMAF0.0004591
Max Magnitude0
OMIM134797
Desc
Variant0023
Relatedalso
ClinVar
Risk rs61746008(A,C;A,C)
Alt rs61746008(A,C;A,C)
Reference rs61746008(G;G)
Significance Other
Disease Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.48704816G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029787.7, RCV000181628.1, RCV000233164.1,


[PMID 17024] Non-cholinergic and non-adrenergic mechanisms in the contraction and relaxation of the chicken rectum.


[PMID 10756346] Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.


[PMID 12915484] Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?


[PMID 16222657] Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.


[PMID 18435798] FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.


[PMID 19059503] Compound-heterozygous Marfan syndrome.