rs1060501048

Orientation

minus

Stabilized

minus

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

Make rs1060501048(A;A)

Make rs1060501048(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48437918

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501048
dbSNP (classic)	rs1060501048
ClinGen	rs1060501048
ebi	rs1060501048
HLI	rs1060501048
Exac	rs1060501048
Gnomad	rs1060501048
Varsome	rs1060501048
LitVar	rs1060501048
Map	rs1060501048
PheGenI	rs1060501048
Biobank	rs1060501048
1000 genomes	rs1060501048
hgdp	rs1060501048
ensembl	rs1060501048
geneview	rs1060501048
scholar	rs1060501048
google	rs1060501048
pharmgkb	rs1060501048
gwascentral	rs1060501048
openSNP	rs1060501048
23andMe	rs1060501048
SNPshot	rs1060501048
SNPdbe	rs1060501048
MSV3d	rs1060501048
GWAS Ctlg	rs1060501048

Max Magnitude

0

ClinVar
Risk	rs1060501048(A;A)
Alt	rs1060501048(A;A)
Reference	Rs1060501048(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48730115C>T
CLNSRC
CLNACC	RCV000462921.1,