rs1060501044

Orientation

minus

Stabilized

minus

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

Make rs1060501044(G;T)

Make rs1060501044(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48437872

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501044
dbSNP (classic)	rs1060501044
ClinGen	rs1060501044
ebi	rs1060501044
HLI	rs1060501044
Exac	rs1060501044
Gnomad	rs1060501044
Varsome	rs1060501044
LitVar	rs1060501044
Map	rs1060501044
PheGenI	rs1060501044
Biobank	rs1060501044
1000 genomes	rs1060501044
hgdp	rs1060501044
ensembl	rs1060501044
geneview	rs1060501044
scholar	rs1060501044
google	rs1060501044
pharmgkb	rs1060501044
gwascentral	rs1060501044
openSNP	rs1060501044
23andMe	rs1060501044
SNPshot	rs1060501044
SNPdbe	rs1060501044
MSV3d	rs1060501044
GWAS Ctlg	rs1060501044

Max Magnitude

0

ClinVar
Risk	rs1060501044(T;T)
Alt	rs1060501044(T;T)
Reference	Rs1060501044(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48730069C>A
CLNSRC
CLNACC	RCV000474831.1,