rs1060501054

Orientation

minus

Stabilized

minus

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

Make rs1060501054(A;A)

Make rs1060501054(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48432910

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501054
dbSNP (classic)	rs1060501054
ClinGen	rs1060501054
ebi	rs1060501054
HLI	rs1060501054
Exac	rs1060501054
Gnomad	rs1060501054
Varsome	rs1060501054
LitVar	rs1060501054
Map	rs1060501054
PheGenI	rs1060501054
Biobank	rs1060501054
1000 genomes	rs1060501054
hgdp	rs1060501054
ensembl	rs1060501054
geneview	rs1060501054
scholar	rs1060501054
google	rs1060501054
pharmgkb	rs1060501054
gwascentral	rs1060501054
openSNP	rs1060501054
23andMe	rs1060501054
SNPshot	rs1060501054
SNPdbe	rs1060501054
MSV3d	rs1060501054
GWAS Ctlg	rs1060501054

Max Magnitude

0

ClinVar
Risk	rs1060501054(A;A)
Alt	rs1060501054(A;A)
Reference	Rs1060501054(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48725107C>T
CLNSRC
CLNACC	RCV000470389.1,