rs1060501082

Orientation

minus

Stabilized

minus

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

Make rs1060501082(C;T)

Make rs1060501082(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48503811

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1060501082
dbSNP (classic)	rs1060501082
ClinGen	rs1060501082
ebi	rs1060501082
HLI	rs1060501082
Exac	rs1060501082
Gnomad	rs1060501082
Varsome	rs1060501082
LitVar	rs1060501082
Map	rs1060501082
PheGenI	rs1060501082
Biobank	rs1060501082
1000 genomes	rs1060501082
hgdp	rs1060501082
ensembl	rs1060501082
geneview	rs1060501082
scholar	rs1060501082
google	rs1060501082
pharmgkb	rs1060501082
gwascentral	rs1060501082
openSNP	rs1060501082
23andMe	rs1060501082
SNPshot	rs1060501082
SNPdbe	rs1060501082
MSV3d	rs1060501082
GWAS Ctlg	rs1060501082

Max Magnitude

0

ClinVar
Risk	rs1060501082(T;T)
Alt	rs1060501082(T;T)
Reference	Rs1060501082(C;C)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48796008G>A
CLNSRC
CLNACC	RCV000465213.1,