rs80356494

Orientation

plus

Stabilized

plus

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

Make rs80356494(A;A)

Make rs80356494(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58077265

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356494
dbSNP (classic)	rs80356494
ClinGen	rs80356494
ebi	rs80356494
HLI	rs80356494
Exac	rs80356494
Gnomad	rs80356494
Varsome	rs80356494
LitVar	rs80356494
Map	rs80356494
PheGenI	rs80356494
Biobank	rs80356494
1000 genomes	rs80356494
hgdp	rs80356494
ensembl	rs80356494
geneview	rs80356494
scholar	rs80356494
google	rs80356494
pharmgkb	rs80356494
gwascentral	rs80356494
openSNP	rs80356494
23andMe	rs80356494
SNPshot	rs80356494
SNPdbe	rs80356494
MSV3d	rs80356494
GWAS Ctlg	rs80356494

Max Magnitude

0

OMIM	603381
Desc
Variant	0009
Related	also

ClinVar
Risk	rs80356494(A;A) rs80356494(G;G)
Alt	rs80356494(A;A) rs80356494(G;G)
Reference	Rs80356494(T;T)
Significance	Pathogenic
Disease	Atelosteogenesis type 1 Boomerang dysplasia
Variation	info
Gene	FLNB
CLNDBN	Atelosteogenesis type 1 Boomerang dysplasia
Reversed	0
HGVS	NC_000003.11:g.58062992T>A; NC_000003.11:g.58062992T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020452.2, RCV000006774.3,