rs1057519320

Orientation

minus

Stabilized

minus

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

Make rs1057519320(C;T)

Make rs1057519320(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48444574

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057519320
dbSNP (classic)	rs1057519320
ClinGen	rs1057519320
ebi	rs1057519320
HLI	rs1057519320
Exac	rs1057519320
Gnomad	rs1057519320
Varsome	rs1057519320
LitVar	rs1057519320
Map	rs1057519320
PheGenI	rs1057519320
Biobank	rs1057519320
1000 genomes	rs1057519320
hgdp	rs1057519320
ensembl	rs1057519320
geneview	rs1057519320
scholar	rs1057519320
google	rs1057519320
pharmgkb	rs1057519320
gwascentral	rs1057519320
openSNP	rs1057519320
23andMe	rs1057519320
SNPshot	rs1057519320
SNPdbe	rs1057519320
MSV3d	rs1057519320
GWAS Ctlg	rs1057519320

Max Magnitude

0

ClinVar
Risk	rs1057519320(T;T)
Alt	rs1057519320(T;T)
Reference	Rs1057519320(C;C)
Significance	Probable-Pathogenic
Disease	Congenital contractural arachnodactyly Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Congenital contractural arachnodactyly Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48736771G>A
CLNSRC
CLNACC	RCV000416355.1,