rs1060501023

Orientation

minus

Stabilized

minus

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

Make rs1060501023(C;T)

Make rs1060501023(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48430758

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501023
dbSNP (classic)	rs1060501023
ClinGen	rs1060501023
ebi	rs1060501023
HLI	rs1060501023
Exac	rs1060501023
Gnomad	rs1060501023
Varsome	rs1060501023
LitVar	rs1060501023
Map	rs1060501023
PheGenI	rs1060501023
Biobank	rs1060501023
1000 genomes	rs1060501023
hgdp	rs1060501023
ensembl	rs1060501023
geneview	rs1060501023
scholar	rs1060501023
google	rs1060501023
pharmgkb	rs1060501023
gwascentral	rs1060501023
openSNP	rs1060501023
23andMe	rs1060501023
SNPshot	rs1060501023
SNPdbe	rs1060501023
MSV3d	rs1060501023
GWAS Ctlg	rs1060501023

Max Magnitude

0

ClinVar
Risk	rs1060501023(T;T)
Alt	rs1060501023(T;T)
Reference	Rs1060501023(C;C)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48722955G>A
CLNSRC
CLNACC	RCV000468306.1,