rs1057518912

Orientation

minus

Stabilized

minus

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

Make rs1057518912(-;-)

Make rs1057518912(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48456643

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518912
dbSNP (classic)	rs1057518912
ClinGen	rs1057518912
ebi	rs1057518912
HLI	rs1057518912
Exac	rs1057518912
Gnomad	rs1057518912
Varsome	rs1057518912
LitVar	rs1057518912
Map	rs1057518912
PheGenI	rs1057518912
Biobank	rs1057518912
1000 genomes	rs1057518912
hgdp	rs1057518912
ensembl	rs1057518912
geneview	rs1057518912
scholar	rs1057518912
google	rs1057518912
pharmgkb	rs1057518912
gwascentral	rs1057518912
openSNP	rs1057518912
23andMe	rs1057518912
SNPshot	rs1057518912
SNPdbe	rs1057518912
MSV3d	rs1057518912
GWAS Ctlg	rs1057518912

Max Magnitude

0

ClinVar
Risk	rs1057518912(-;-)
Alt	rs1057518912(-;-)
Reference	Rs1057518912(T;T)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48748840delA
CLNSRC
CLNACC	RCV000414847.1,