rs1060501076

Orientation

minus

Stabilized

minus

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

Make rs1060501076(G;T)

Make rs1060501076(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48468526

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501076
dbSNP (classic)	rs1060501076
ClinGen	rs1060501076
ebi	rs1060501076
HLI	rs1060501076
Exac	rs1060501076
Gnomad	rs1060501076
Varsome	rs1060501076
LitVar	rs1060501076
Map	rs1060501076
PheGenI	rs1060501076
Biobank	rs1060501076
1000 genomes	rs1060501076
hgdp	rs1060501076
ensembl	rs1060501076
geneview	rs1060501076
scholar	rs1060501076
google	rs1060501076
pharmgkb	rs1060501076
gwascentral	rs1060501076
openSNP	rs1060501076
23andMe	rs1060501076
SNPshot	rs1060501076
SNPdbe	rs1060501076
MSV3d	rs1060501076
GWAS Ctlg	rs1060501076

Max Magnitude

0

ClinVar
Risk	rs1060501076(T;T)
Alt	rs1060501076(T;T)
Reference	Rs1060501076(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48760723C>A
CLNSRC
CLNACC	RCV000469828.1,