rs80356519

Orientation

plus

Stabilized

plus

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

Make rs80356519(C;T)

Make rs80356519(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58110138

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356519
dbSNP (classic)	rs80356519
ClinGen	rs80356519
ebi	rs80356519
HLI	rs80356519
Exac	rs80356519
Gnomad	rs80356519
Varsome	rs80356519
LitVar	rs80356519
Map	rs80356519
PheGenI	rs80356519
Biobank	rs80356519
1000 genomes	rs80356519
hgdp	rs80356519
ensembl	rs80356519
geneview	rs80356519
scholar	rs80356519
google	rs80356519
pharmgkb	rs80356519
gwascentral	rs80356519
openSNP	rs80356519
23andMe	rs80356519
SNPshot	rs80356519
SNPdbe	rs80356519
MSV3d	rs80356519
GWAS Ctlg	rs80356519

Max Magnitude

0

OMIM	603381
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80356519(T;T)
Alt	rs80356519(T;T)
Reference	Rs80356519(C;C)
Significance	Pathogenic
Disease	Spondylocarpotarsal synostosis syndrome
Variation	info
Gene	FLNB
CLNDBN	Spondylocarpotarsal synostosis syndrome
Reversed	0
HGVS	NC_000003.11:g.58095865C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006768.3,

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