rs1057518812

Orientation

minus

Stabilized

minus

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

Make rs1057518812(A;T)

Make rs1057518812(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48430742

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs1057518812
dbSNP (classic)	rs1057518812
ClinGen	rs1057518812
ebi	rs1057518812
HLI	rs1057518812
Exac	rs1057518812
Gnomad	rs1057518812
Varsome	rs1057518812
LitVar	rs1057518812
Map	rs1057518812
PheGenI	rs1057518812
Biobank	rs1057518812
1000 genomes	rs1057518812
hgdp	rs1057518812
ensembl	rs1057518812
geneview	rs1057518812
scholar	rs1057518812
google	rs1057518812
pharmgkb	rs1057518812
gwascentral	rs1057518812
openSNP	rs1057518812
23andMe	rs1057518812
SNPshot	rs1057518812
SNPdbe	rs1057518812
MSV3d	rs1057518812
GWAS Ctlg	rs1057518812

Max Magnitude

0

ClinVar
Risk	rs1057518812(T;T)
Alt	rs1057518812(T;T)
Reference	Rs1057518812(A;A)
Significance	Pathogenic
Disease	Dilatation of the ascending aorta Dolichocephaly High palate Mitral valve prolapse Myopia Pes planus Scoliosis
Variation	info
Gene	FBN1
CLNDBN	Dilatation of the ascending aorta Dolichocephaly High palate Mitral valve prolapse Myopia Pes planus Scoliosis
Reversed	1
HGVS	NC_000015.9:g.48722939T>A
CLNSRC
CLNACC	RCV000414920.1,