rs863223569

Orientation

minus

Stabilized

minus

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

Make rs863223569(C;T)

Make rs863223569(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

128336042

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs863223569
dbSNP (classic)	rs863223569
ClinGen	rs863223569
ebi	rs863223569
HLI	rs863223569
Exac	rs863223569
Gnomad	rs863223569
Varsome	rs863223569
LitVar	rs863223569
Map	rs863223569
PheGenI	rs863223569
Biobank	rs863223569
1000 genomes	rs863223569
hgdp	rs863223569
ensembl	rs863223569
geneview	rs863223569
scholar	rs863223569
google	rs863223569
pharmgkb	rs863223569
gwascentral	rs863223569
openSNP	rs863223569
23andMe	rs863223569
SNPshot	rs863223569
SNPdbe	rs863223569
MSV3d	rs863223569
GWAS Ctlg	rs863223569

Max Magnitude

0

ClinVar
Risk	rs863223569(T;T)
Alt	rs863223569(T;T)
Reference	Rs863223569(C;C)
Significance	Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127671734G>A
CLNSRC
CLNACC	RCV000469601.1,