rs193921256

Orientation

minus

Stabilized

minus

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

Make rs193921256(A;A)

Make rs193921256(A;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48495575

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs193921256
dbSNP (classic)	rs193921256
ClinGen	rs193921256
ebi	rs193921256
HLI	rs193921256
Exac	rs193921256
Gnomad	rs193921256
Varsome	rs193921256
LitVar	rs193921256
Map	rs193921256
PheGenI	rs193921256
Biobank	rs193921256
1000 genomes	rs193921256
hgdp	rs193921256
ensembl	rs193921256
geneview	rs193921256
scholar	rs193921256
google	rs193921256
pharmgkb	rs193921256
gwascentral	rs193921256
openSNP	rs193921256
23andMe	rs193921256
SNPshot	rs193921256
SNPdbe	rs193921256
MSV3d	rs193921256
GWAS Ctlg	rs193921256

Max Magnitude

0

ClinVar
Risk	rs193921256(A;A) rs193921256(T;T)
Alt	rs193921256(A;A) rs193921256(T;T)
Reference	Rs193921256(C;C)
Significance	Pathogenic
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Reversed	1
HGVS	NC_000015.9:g.48787772G>A; NC_000015.9:g.48787772G>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029710.1, RCV000029709.1, RCV000246378.1, RCV000493454.1,

[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.