rs61746008

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs61746008(A;A)

Make rs61746008(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48412619

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs61746008
dbSNP (classic)	rs61746008
ClinGen	rs61746008
ebi	rs61746008
HLI	rs61746008
Exac	rs61746008
Gnomad	rs61746008
Varsome	rs61746008
LitVar	rs61746008
Map	rs61746008
PheGenI	rs61746008
Biobank	rs61746008
1000 genomes	rs61746008
hgdp	rs61746008
ensembl	rs61746008
geneview	rs61746008
scholar	rs61746008
google	rs61746008
pharmgkb	rs61746008
gwascentral	rs61746008
openSNP	rs61746008
23andMe	rs61746008
SNPshot	rs61746008
SNPdbe	rs61746008
MSV3d	rs61746008
GWAS Ctlg	rs61746008

GMAF

0.0004591

Max Magnitude

0

aka c.8176C>T (p.Arg2726Trp)

considered either benign or as a variant of uncertain significance in ClinVar

OMIM	134797
Desc
Variant	0023
Related	also

ClinVar
Risk	rs61746008(A;A) rs61746008(C;C)
Alt	rs61746008(A;A) rs61746008(C;C)
Reference	Rs61746008(G;G)
Significance	Other
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not specified Acromicric dysplasia Weill-Marchesani syndrome Geleophysic dysplasia MASS syndrome Stiff skin syndrome Ectopia lentis
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not specified Acromicric dysplasia Weill-Marchesani syndrome Geleophysic dysplasia MASS syndrome Stiff skin syndrome Ectopia lentis
Reversed	0
HGVS	NC_000015.9:g.48704816G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029787.9, RCV000181628.3, RCV000233164.2, RCV000243696.3, RCV000279856.1, RCV000306003.1, RCV000337198.1, RCV000359686.1, RCV000394448.1, RCV000399653.1,

[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.