rs80356513

Orientation

plus

Stabilized

plus

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

Make rs80356513(A;A)

Make rs80356513(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58136063

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356513
dbSNP (classic)	rs80356513
ClinGen	rs80356513
ebi	rs80356513
HLI	rs80356513
Exac	rs80356513
Gnomad	rs80356513
Varsome	rs80356513
LitVar	rs80356513
Map	rs80356513
PheGenI	rs80356513
Biobank	rs80356513
1000 genomes	rs80356513
hgdp	rs80356513
ensembl	rs80356513
geneview	rs80356513
scholar	rs80356513
google	rs80356513
pharmgkb	rs80356513
gwascentral	rs80356513
openSNP	rs80356513
23andMe	rs80356513
SNPshot	rs80356513
SNPdbe	rs80356513
MSV3d	rs80356513
GWAS Ctlg	rs80356513

Merged from

Rs28939706

Max Magnitude

0

OMIM	603381
Desc
Variant	0005
Related	also

ClinVar
Risk	rs80356513(A;A)
Alt	rs80356513(A;A)
Reference	Rs80356513(G;G)
Significance	Pathogenic
Disease	Larsen syndrome Larsen syndrome
Variation	info
Gene	FLNB
CLNDBN	Larsen syndrome Larsen syndrome, dominant type
Reversed	0
HGVS	NC_000003.11:g.58121790G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030661.3, RCV000030669.2,

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