rs1060501058

Orientation

minus

Stabilized

minus

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

Make rs1060501058(AA;C)

Make rs1060501058(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48505096

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501058
dbSNP (classic)	rs1060501058
ClinGen	rs1060501058
ebi	rs1060501058
HLI	rs1060501058
Exac	rs1060501058
Gnomad	rs1060501058
Varsome	rs1060501058
LitVar	rs1060501058
Map	rs1060501058
PheGenI	rs1060501058
Biobank	rs1060501058
1000 genomes	rs1060501058
hgdp	rs1060501058
ensembl	rs1060501058
geneview	rs1060501058
scholar	rs1060501058
google	rs1060501058
pharmgkb	rs1060501058
gwascentral	rs1060501058
openSNP	rs1060501058
23andMe	rs1060501058
SNPshot	rs1060501058
SNPdbe	rs1060501058
MSV3d	rs1060501058
GWAS Ctlg	rs1060501058

Max Magnitude

0

ClinVar
Risk	rs1060501058(C;C)
Alt	rs1060501058(C;C)
Reference	Rs1060501058(AA;AA)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48797293_48797294delTTinsG
CLNSRC
CLNACC	RCV000466643.1,