rs1057518883

Orientation

minus

Stabilized

minus

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

Make rs1057518883(G;G)

Make rs1057518883(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48415571

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518883
dbSNP (classic)	rs1057518883
ClinGen	rs1057518883
ebi	rs1057518883
HLI	rs1057518883
Exac	rs1057518883
Gnomad	rs1057518883
Varsome	rs1057518883
LitVar	rs1057518883
Map	rs1057518883
PheGenI	rs1057518883
Biobank	rs1057518883
1000 genomes	rs1057518883
hgdp	rs1057518883
ensembl	rs1057518883
geneview	rs1057518883
scholar	rs1057518883
google	rs1057518883
pharmgkb	rs1057518883
gwascentral	rs1057518883
openSNP	rs1057518883
23andMe	rs1057518883
SNPshot	rs1057518883
SNPdbe	rs1057518883
MSV3d	rs1057518883
GWAS Ctlg	rs1057518883

Max Magnitude

0

ClinVar
Risk	rs1057518883(G;G)
Alt	rs1057518883(G;G)
Reference	Rs1057518883(T;T)
Significance	Probable-Pathogenic
Disease	Aortic root dilatation Dental crowding Ectopia lentis High palate Mitral regurgitation Protrusio acetabuli Tall stature
Variation	info
Gene	FBN1
CLNDBN	Aortic root dilatation Dental crowding Ectopia lentis High palate Mitral regurgitation Protrusio acetabuli Tall stature
Reversed	1
HGVS	NC_000015.9:g.48707768A>C
CLNSRC
CLNACC	RCV000414807.1,