rs80356518
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs80356518(G;G) |
Make rs80356518(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 58163161 |
Gene | FLNB, FLNB-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356518 |
dbSNP (classic) | rs80356518 |
ClinGen | rs80356518 |
ebi | rs80356518 |
HLI | rs80356518 |
Exac | rs80356518 |
Gnomad | rs80356518 |
Varsome | rs80356518 |
LitVar | rs80356518 |
Map | rs80356518 |
PheGenI | rs80356518 |
Biobank | rs80356518 |
1000 genomes | rs80356518 |
hgdp | rs80356518 |
ensembl | rs80356518 |
geneview | rs80356518 |
scholar | rs80356518 |
rs80356518 | |
pharmgkb | rs80356518 |
gwascentral | rs80356518 |
openSNP | rs80356518 |
23andMe | rs80356518 |
SNPshot | rs80356518 |
SNPdbe | rs80356518 |
MSV3d | rs80356518 |
GWAS Ctlg | rs80356518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356518(G;G) |
Alt | rs80356518(G;G) |
Reference | Rs80356518(T;T) |
Significance | Pathogenic |
Disease | Spondylocarpotarsal synostosis syndrome |
Variation | info |
Gene | LOC105377105 FLNB LOC101929182 |
CLNDBN | Spondylocarpotarsal synostosis syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.58148888T>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020460.2, |