rs112084407

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs112084407(A;A)

Make rs112084407(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48432905

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs112084407
dbSNP (classic)	rs112084407
ClinGen	rs112084407
ebi	rs112084407
HLI	rs112084407
Exac	rs112084407
Gnomad	rs112084407
Varsome	rs112084407
LitVar	rs112084407
Map	rs112084407
PheGenI	rs112084407
Biobank	rs112084407
1000 genomes	rs112084407
hgdp	rs112084407
ensembl	rs112084407
geneview	rs112084407
scholar	rs112084407
google	rs112084407
pharmgkb	rs112084407
gwascentral	rs112084407
openSNP	rs112084407
23andMe	rs112084407
SNPshot	rs112084407
SNPdbe	rs112084407
MSV3d	rs112084407
GWAS Ctlg	rs112084407

Max Magnitude

0

ClinVar
Risk	rs112084407(A;A)
Alt	rs112084407(A;A)
Reference	Rs112084407(G;G)
Significance	Other
Disease	Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection Ectopia lentis Geleophysic dysplasia Acromicric dysplasia
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection Ectopia lentis Geleophysic dysplasia Acromicric dysplasia
Reversed	1
HGVS	NC_000015.9:g.48725102C>T
CLNSRC	ClinVar LabCorp University of Washington
CLNACC	RCV000029766.5, RCV000035252.4, RCV000245529.1, RCV000270709.1, RCV000273547.1, RCV000310000.1, RCV000460555.1,

[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.