rs1060501053

Orientation

minus

Stabilized

minus

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

Make rs1060501053(A;G)

Make rs1060501053(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48446824

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501053
dbSNP (classic)	rs1060501053
ClinGen	rs1060501053
ebi	rs1060501053
HLI	rs1060501053
Exac	rs1060501053
Gnomad	rs1060501053
Varsome	rs1060501053
LitVar	rs1060501053
Map	rs1060501053
PheGenI	rs1060501053
Biobank	rs1060501053
1000 genomes	rs1060501053
hgdp	rs1060501053
ensembl	rs1060501053
geneview	rs1060501053
scholar	rs1060501053
google	rs1060501053
pharmgkb	rs1060501053
gwascentral	rs1060501053
openSNP	rs1060501053
23andMe	rs1060501053
SNPshot	rs1060501053
SNPdbe	rs1060501053
MSV3d	rs1060501053
GWAS Ctlg	rs1060501053

Max Magnitude

0

ClinVar
Risk	rs1060501053(G;G)
Alt	rs1060501053(G;G)
Reference	Rs1060501053(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48739021T>C
CLNSRC
CLNACC	RCV000466451.1,