rs1057519321

Orientation

minus

Stabilized

minus

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

Make rs1057519321(G;T)

Make rs1057519321(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

128349391

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs1057519321
dbSNP (classic)	rs1057519321
ClinGen	rs1057519321
ebi	rs1057519321
HLI	rs1057519321
Exac	rs1057519321
Gnomad	rs1057519321
Varsome	rs1057519321
LitVar	rs1057519321
Map	rs1057519321
PheGenI	rs1057519321
Biobank	rs1057519321
1000 genomes	rs1057519321
hgdp	rs1057519321
ensembl	rs1057519321
geneview	rs1057519321
scholar	rs1057519321
google	rs1057519321
pharmgkb	rs1057519321
gwascentral	rs1057519321
openSNP	rs1057519321
23andMe	rs1057519321
SNPshot	rs1057519321
SNPdbe	rs1057519321
MSV3d	rs1057519321
GWAS Ctlg	rs1057519321

Max Magnitude

0

ClinVar
Risk	rs1057519321(T;T)
Alt	rs1057519321(T;T)
Reference	Rs1057519321(G;G)
Significance	Probable-Pathogenic
Disease	Congenital contractural arachnodactyly Marfan syndrome
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly Marfan syndrome
Reversed	1
HGVS	NC_000005.9:g.127685083C>A
CLNSRC
CLNACC	RCV000416376.1,