rs28931602

Orientation

minus

Stabilized

minus

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

Make rs28931602(G;G)

Make rs28931602(G;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

128335543

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs28931602
dbSNP (classic)	rs28931602
ClinGen	rs28931602
ebi	rs28931602
HLI	rs28931602
Exac	rs28931602
Gnomad	rs28931602
Varsome	rs28931602
LitVar	rs28931602
Map	rs28931602
PheGenI	rs28931602
Biobank	rs28931602
1000 genomes	rs28931602
hgdp	rs28931602
ensembl	rs28931602
geneview	rs28931602
scholar	rs28931602
google	rs28931602
pharmgkb	rs28931602
gwascentral	rs28931602
openSNP	rs28931602
23andMe	rs28931602
SNPshot	rs28931602
SNPdbe	rs28931602
MSV3d	rs28931602
GWAS Ctlg	rs28931602

Max Magnitude

0

OMIM	121050
Desc	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
Variant	0009
Related	also

OMIM	612570
Desc
Variant	0009
Related	also

ClinVar
Risk	rs28931602(G;G)
Alt	rs28931602(G;G)
Reference	Rs28931602(T;T)
Significance	Pathogenic
Disease	Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	Congenital contractural arachnodactyly
Reversed	1
HGVS	NC_000005.9:g.127671235A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000556.3,