rs80356493
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80356493(A;A) |
Make rs80356493(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 58077195 |
Gene | FLNB |
is a | snp |
is | mentioned by |
dbSNP | rs80356493 |
dbSNP (classic) | rs80356493 |
ClinGen | rs80356493 |
ebi | rs80356493 |
HLI | rs80356493 |
Exac | rs80356493 |
Gnomad | rs80356493 |
Varsome | rs80356493 |
LitVar | rs80356493 |
Map | rs80356493 |
PheGenI | rs80356493 |
Biobank | rs80356493 |
1000 genomes | rs80356493 |
hgdp | rs80356493 |
ensembl | rs80356493 |
geneview | rs80356493 |
scholar | rs80356493 |
rs80356493 | |
pharmgkb | rs80356493 |
gwascentral | rs80356493 |
openSNP | rs80356493 |
23andMe | rs80356493 |
SNPshot | rs80356493 |
SNPdbe | rs80356493 |
MSV3d | rs80356493 |
GWAS Ctlg | rs80356493 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356493(A;A) |
Alt | rs80356493(A;A) |
Reference | Rs80356493(T;T) |
Significance | Pathogenic |
Disease | Atelosteogenesis type 1 |
Variation | info |
Gene | FLNB |
CLNDBN | Atelosteogenesis type 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.58062922T>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020445.2, |