rs1057519502

Orientation

minus

Stabilized

minus

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

Make rs1057519502(C;T)

Make rs1057519502(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48495237

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057519502
dbSNP (classic)	rs1057519502
ClinGen	rs1057519502
ebi	rs1057519502
HLI	rs1057519502
Exac	rs1057519502
Gnomad	rs1057519502
Varsome	rs1057519502
LitVar	rs1057519502
Map	rs1057519502
PheGenI	rs1057519502
Biobank	rs1057519502
1000 genomes	rs1057519502
hgdp	rs1057519502
ensembl	rs1057519502
geneview	rs1057519502
scholar	rs1057519502
google	rs1057519502
pharmgkb	rs1057519502
gwascentral	rs1057519502
openSNP	rs1057519502
23andMe	rs1057519502
SNPshot	rs1057519502
SNPdbe	rs1057519502
MSV3d	rs1057519502
GWAS Ctlg	rs1057519502

Max Magnitude

0

ClinVar
Risk	rs1057519502(T;T)
Alt	rs1057519502(T;T)
Reference	Rs1057519502(C;C)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787434G>A
CLNSRC
CLNACC	RCV000416509.1,