rs1060501092

Orientation

minus

Stabilized

minus

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

Make rs1060501092(A;A)

Make rs1060501092(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48497265

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501092
dbSNP (classic)	rs1060501092
ClinGen	rs1060501092
ebi	rs1060501092
HLI	rs1060501092
Exac	rs1060501092
Gnomad	rs1060501092
Varsome	rs1060501092
LitVar	rs1060501092
Map	rs1060501092
PheGenI	rs1060501092
Biobank	rs1060501092
1000 genomes	rs1060501092
hgdp	rs1060501092
ensembl	rs1060501092
geneview	rs1060501092
scholar	rs1060501092
google	rs1060501092
pharmgkb	rs1060501092
gwascentral	rs1060501092
openSNP	rs1060501092
23andMe	rs1060501092
SNPshot	rs1060501092
SNPdbe	rs1060501092
MSV3d	rs1060501092
GWAS Ctlg	rs1060501092

Max Magnitude

0

ClinVar
Risk	rs1060501092(A;A)
Alt	rs1060501092(A;A)
Reference	Rs1060501092(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48789462C>T
CLNSRC
CLNACC	RCV000466775.1,