rs1060501022

Orientation

minus

Stabilized

minus

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

Make rs1060501022(C;C)

Make rs1060501022(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48496214

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501022
dbSNP (classic)	rs1060501022
ClinGen	rs1060501022
ebi	rs1060501022
HLI	rs1060501022
Exac	rs1060501022
Gnomad	rs1060501022
Varsome	rs1060501022
LitVar	rs1060501022
Map	rs1060501022
PheGenI	rs1060501022
Biobank	rs1060501022
1000 genomes	rs1060501022
hgdp	rs1060501022
ensembl	rs1060501022
geneview	rs1060501022
scholar	rs1060501022
google	rs1060501022
pharmgkb	rs1060501022
gwascentral	rs1060501022
openSNP	rs1060501022
23andMe	rs1060501022
SNPshot	rs1060501022
SNPdbe	rs1060501022
MSV3d	rs1060501022
GWAS Ctlg	rs1060501022

Max Magnitude

0

ClinVar
Risk	rs1060501022(C;C)
Alt	rs1060501022(C;C)
Reference	Rs1060501022(T;T)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48788411A>G
CLNSRC
CLNACC	RCV000474029.1,