rs1060501075

Orientation

minus

Stabilized

minus

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

Make rs1060501075(A;A)

Make rs1060501075(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48487356

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501075
dbSNP (classic)	rs1060501075
ClinGen	rs1060501075
ebi	rs1060501075
HLI	rs1060501075
Exac	rs1060501075
Gnomad	rs1060501075
Varsome	rs1060501075
LitVar	rs1060501075
Map	rs1060501075
PheGenI	rs1060501075
Biobank	rs1060501075
1000 genomes	rs1060501075
hgdp	rs1060501075
ensembl	rs1060501075
geneview	rs1060501075
scholar	rs1060501075
google	rs1060501075
pharmgkb	rs1060501075
gwascentral	rs1060501075
openSNP	rs1060501075
23andMe	rs1060501075
SNPshot	rs1060501075
SNPdbe	rs1060501075
MSV3d	rs1060501075
GWAS Ctlg	rs1060501075

Max Magnitude

0

ClinVar
Risk	rs1060501075(A;A)
Alt	rs1060501075(A;A)
Reference	Rs1060501075(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48779553C>T
CLNSRC
CLNACC	RCV000476463.1,