rs80356520

Orientation

plus

Stabilized

plus

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

Make rs80356520(C;T)

Make rs80356520(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58136126

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356520
dbSNP (classic)	rs80356520
ClinGen	rs80356520
ebi	rs80356520
HLI	rs80356520
Exac	rs80356520
Gnomad	rs80356520
Varsome	rs80356520
LitVar	rs80356520
Map	rs80356520
PheGenI	rs80356520
Biobank	rs80356520
1000 genomes	rs80356520
hgdp	rs80356520
ensembl	rs80356520
geneview	rs80356520
scholar	rs80356520
google	rs80356520
pharmgkb	rs80356520
gwascentral	rs80356520
openSNP	rs80356520
23andMe	rs80356520
SNPshot	rs80356520
SNPdbe	rs80356520
MSV3d	rs80356520
GWAS Ctlg	rs80356520

Max Magnitude

0

OMIM	603381
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356520(G;G) rs80356520(T;T)
Alt	rs80356520(G;G) rs80356520(T;T)
Reference	Rs80356520(C;C)
Significance	Pathogenic
Disease	Spondylocarpotarsal synostosis syndrome
Variation	info
Gene	FLNB
CLNDBN	Spondylocarpotarsal synostosis syndrome
Reversed	0
HGVS	NC_000003.11:g.58121853C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006769.3,

[PMID 14991055] Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.