rs1060501014

Orientation

minus

Stabilized

minus

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

Make rs1060501014(C;C)

Make rs1060501014(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48415567

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501014
dbSNP (classic)	rs1060501014
ClinGen	rs1060501014
ebi	rs1060501014
HLI	rs1060501014
Exac	rs1060501014
Gnomad	rs1060501014
Varsome	rs1060501014
LitVar	rs1060501014
Map	rs1060501014
PheGenI	rs1060501014
Biobank	rs1060501014
1000 genomes	rs1060501014
hgdp	rs1060501014
ensembl	rs1060501014
geneview	rs1060501014
scholar	rs1060501014
google	rs1060501014
pharmgkb	rs1060501014
gwascentral	rs1060501014
openSNP	rs1060501014
23andMe	rs1060501014
SNPshot	rs1060501014
SNPdbe	rs1060501014
MSV3d	rs1060501014
GWAS Ctlg	rs1060501014

Max Magnitude

0

ClinVar
Risk	rs1060501014(C;C)
Alt	rs1060501014(C;C)
Reference	Rs1060501014(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48707764A>G
CLNSRC
CLNACC	RCV000457775.1,