rs1057518973

Orientation

minus

Stabilized

minus

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

Make rs1057518973(C;C)

Make rs1057518973(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48596343

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518973
dbSNP (classic)	rs1057518973
ClinGen	rs1057518973
ebi	rs1057518973
HLI	rs1057518973
Exac	rs1057518973
Gnomad	rs1057518973
Varsome	rs1057518973
LitVar	rs1057518973
Map	rs1057518973
PheGenI	rs1057518973
Biobank	rs1057518973
1000 genomes	rs1057518973
hgdp	rs1057518973
ensembl	rs1057518973
geneview	rs1057518973
scholar	rs1057518973
google	rs1057518973
pharmgkb	rs1057518973
gwascentral	rs1057518973
openSNP	rs1057518973
23andMe	rs1057518973
SNPshot	rs1057518973
SNPdbe	rs1057518973
MSV3d	rs1057518973
GWAS Ctlg	rs1057518973

Max Magnitude

0

ClinVar
Risk	rs1057518973(C;C)
Alt	rs1057518973(C;C)
Reference	Rs1057518973(T;T)
Significance	Probable-Pathogenic
Disease	Aortic dissection Ectopia lentis Mitral regurgitation
Variation	info
Gene	FBN1
CLNDBN	Aortic dissection Ectopia lentis Mitral regurgitation
Reversed	1
HGVS	NC_000015.9:g.48888540A>G
CLNSRC
CLNACC	RCV000415236.1,