rs587776518

Orientation

plus

Stabilized

minus

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

Make rs587776518(A;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

128328823

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs587776518
dbSNP (classic)	rs587776518
ClinGen	rs587776518
ebi	rs587776518
HLI	rs587776518
Exac	rs587776518
Gnomad	rs587776518
Varsome	rs587776518
LitVar	rs587776518
Map	rs587776518
PheGenI	rs587776518
Biobank	rs587776518
1000 genomes	rs587776518
hgdp	rs587776518
ensembl	rs587776518
geneview	rs587776518
scholar	rs587776518
google	rs587776518
pharmgkb	rs587776518
gwascentral	rs587776518
openSNP	rs587776518
23andMe	rs587776518
SNPshot	rs587776518
SNPdbe	rs587776518
MSV3d	rs587776518
GWAS Ctlg	rs587776518

Max Magnitude

0

ClinVar
Risk	Rs587776518(T;T)
Alt	Rs587776518(T;T)
Reference	Rs587776518(A;A)
Significance	Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127664515T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000551.3,