rs80356498

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CGA;CGA)	0	common in clinvar
(GAC;GAC)	0	common in clinvar
(I;I)	0	common genotype

Make rs80356498(-;-)

Make rs80356498(-;GAC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58136054

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs80356498
dbSNP (classic)	rs80356498
ClinGen	rs80356498
ebi	rs80356498
HLI	rs80356498
Exac	rs80356498
Gnomad	rs80356498
Varsome	rs80356498
LitVar	rs80356498
Map	rs80356498
PheGenI	rs80356498
Biobank	rs80356498
1000 genomes	rs80356498
hgdp	rs80356498
ensembl	rs80356498
geneview	rs80356498
scholar	rs80356498
google	rs80356498
pharmgkb	rs80356498
gwascentral	rs80356498
openSNP	rs80356498
23andMe	rs80356498
SNPshot	rs80356498
SNPdbe	rs80356498
MSV3d	rs80356498
GWAS Ctlg	rs80356498

Max Magnitude

0

ClinVar
Risk	rs80356498(-;-)
Alt	rs80356498(-;-)
Reference	Rs80356498(CGA;CGA)
Significance	Pathogenic
Disease	Atelosteogenesis type 1
Variation	info
Gene	FLNB
CLNDBN	Atelosteogenesis type 1
Reversed	0
HGVS	NC_000003.11:g.58121781_58121783delGAC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020447.2,