rs1060501052

Orientation

minus

Stabilized

minus

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

Make rs1060501052(A;G)

Make rs1060501052(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48495590

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501052
dbSNP (classic)	rs1060501052
ClinGen	rs1060501052
ebi	rs1060501052
HLI	rs1060501052
Exac	rs1060501052
Gnomad	rs1060501052
Varsome	rs1060501052
LitVar	rs1060501052
Map	rs1060501052
PheGenI	rs1060501052
Biobank	rs1060501052
1000 genomes	rs1060501052
hgdp	rs1060501052
ensembl	rs1060501052
geneview	rs1060501052
scholar	rs1060501052
google	rs1060501052
pharmgkb	rs1060501052
gwascentral	rs1060501052
openSNP	rs1060501052
23andMe	rs1060501052
SNPshot	rs1060501052
SNPdbe	rs1060501052
MSV3d	rs1060501052
GWAS Ctlg	rs1060501052

Max Magnitude

0

ClinVar
Risk	rs1060501052(G;G)
Alt	rs1060501052(G;G)
Reference	Rs1060501052(A;A)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48787787T>C
CLNSRC
CLNACC	RCV000457150.1,