rs587776519

Orientation

plus

Stabilized

minus

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

Make rs587776519(C;C)

Make rs587776519(C;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

128335592

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs587776519
dbSNP (classic)	rs587776519
ClinGen	rs587776519
ebi	rs587776519
HLI	rs587776519
Exac	rs587776519
Gnomad	rs587776519
Varsome	rs587776519
LitVar	rs587776519
Map	rs587776519
PheGenI	rs587776519
Biobank	rs587776519
1000 genomes	rs587776519
hgdp	rs587776519
ensembl	rs587776519
geneview	rs587776519
scholar	rs587776519
google	rs587776519
pharmgkb	rs587776519
gwascentral	rs587776519
openSNP	rs587776519
23andMe	rs587776519
SNPshot	rs587776519
SNPdbe	rs587776519
MSV3d	rs587776519
GWAS Ctlg	rs587776519

Max Magnitude

0

ClinVar
Risk	rs587776519(C;C) Rs587776519(T;T)
Alt	rs587776519(C;C) Rs587776519(T;T)
Reference	Rs587776519(A;A)
Significance	Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127671284T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000552.2,