rs121908894

Orientation

plus

Stabilized

plus

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

Make rs121908894(C;T)

Make rs121908894(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

58077271

Gene

FLNB

is a	snp
is	mentioned by
dbSNP	rs121908894
dbSNP (classic)	rs121908894
ClinGen	rs121908894
ebi	rs121908894
HLI	rs121908894
Exac	rs121908894
Gnomad	rs121908894
Varsome	rs121908894
LitVar	rs121908894
Map	rs121908894
PheGenI	rs121908894
Biobank	rs121908894
1000 genomes	rs121908894
hgdp	rs121908894
ensembl	rs121908894
geneview	rs121908894
scholar	rs121908894
google	rs121908894
pharmgkb	rs121908894
gwascentral	rs121908894
openSNP	rs121908894
23andMe	rs121908894
SNPshot	rs121908894
SNPdbe	rs121908894
MSV3d	rs121908894
GWAS Ctlg	rs121908894

Max Magnitude

0

OMIM	603381
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908894(T;T)
Alt	rs121908894(T;T)
Reference	Rs121908894(C;C)
Significance	Pathogenic
Disease	Atelosteogenesis type 1
Variation	info
Gene	FLNB
CLNDBN	Atelosteogenesis type 1
Reversed	0
HGVS	NC_000003.11:g.58062998C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006770.3,