rs1060501078

Orientation

minus

Stabilized

minus

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

Make rs1060501078(A;A)

Make rs1060501078(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48505070

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501078
dbSNP (classic)	rs1060501078
ClinGen	rs1060501078
ebi	rs1060501078
HLI	rs1060501078
Exac	rs1060501078
Gnomad	rs1060501078
Varsome	rs1060501078
LitVar	rs1060501078
Map	rs1060501078
PheGenI	rs1060501078
Biobank	rs1060501078
1000 genomes	rs1060501078
hgdp	rs1060501078
ensembl	rs1060501078
geneview	rs1060501078
scholar	rs1060501078
google	rs1060501078
pharmgkb	rs1060501078
gwascentral	rs1060501078
openSNP	rs1060501078
23andMe	rs1060501078
SNPshot	rs1060501078
SNPdbe	rs1060501078
MSV3d	rs1060501078
GWAS Ctlg	rs1060501078

Max Magnitude

0

ClinVar
Risk	rs1060501078(A;A)
Alt	rs1060501078(A;A)
Reference	Rs1060501078(T;T)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48797267A>T
CLNSRC
CLNACC	RCV000456810.1,