rs1060501039

Orientation

minus

Stabilized

minus

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

Make rs1060501039(A;A)

Make rs1060501039(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48474554

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501039
dbSNP (classic)	rs1060501039
ClinGen	rs1060501039
ebi	rs1060501039
HLI	rs1060501039
Exac	rs1060501039
Gnomad	rs1060501039
Varsome	rs1060501039
LitVar	rs1060501039
Map	rs1060501039
PheGenI	rs1060501039
Biobank	rs1060501039
1000 genomes	rs1060501039
hgdp	rs1060501039
ensembl	rs1060501039
geneview	rs1060501039
scholar	rs1060501039
google	rs1060501039
pharmgkb	rs1060501039
gwascentral	rs1060501039
openSNP	rs1060501039
23andMe	rs1060501039
SNPshot	rs1060501039
SNPdbe	rs1060501039
MSV3d	rs1060501039
GWAS Ctlg	rs1060501039

Max Magnitude

0

ClinVar
Risk	rs1060501039(A;A)
Alt	rs1060501039(A;A)
Reference	Rs1060501039(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48766751C>T
CLNSRC
CLNACC	RCV000463734.1,