rs137852828

Orientation

minus

Stabilized

minus

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

Make rs137852828(G;T)

Make rs137852828(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

128338980

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs137852828
dbSNP (classic)	rs137852828
ClinGen	rs137852828
ebi	rs137852828
HLI	rs137852828
Exac	rs137852828
Gnomad	rs137852828
Varsome	rs137852828
LitVar	rs137852828
Map	rs137852828
PheGenI	rs137852828
Biobank	rs137852828
1000 genomes	rs137852828
hgdp	rs137852828
ensembl	rs137852828
geneview	rs137852828
scholar	rs137852828
google	rs137852828
pharmgkb	rs137852828
gwascentral	rs137852828
openSNP	rs137852828
23andMe	rs137852828
SNPshot	rs137852828
SNPdbe	rs137852828
MSV3d	rs137852828
GWAS Ctlg	rs137852828

Max Magnitude

0

OMIM	612570
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852828(T;T)
Alt	rs137852828(T;T)
Reference	Rs137852828(G;G)
Significance	Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127674672C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000555.3,