rs863223580
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863223580(A;G) |
Make rs863223580(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 128289254 |
Gene | FBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223580 |
dbSNP (classic) | rs863223580 |
ClinGen | rs863223580 |
ebi | rs863223580 |
HLI | rs863223580 |
Exac | rs863223580 |
Gnomad | rs863223580 |
Varsome | rs863223580 |
LitVar | rs863223580 |
Map | rs863223580 |
PheGenI | rs863223580 |
Biobank | rs863223580 |
1000 genomes | rs863223580 |
hgdp | rs863223580 |
ensembl | rs863223580 |
geneview | rs863223580 |
scholar | rs863223580 |
rs863223580 | |
pharmgkb | rs863223580 |
gwascentral | rs863223580 |
openSNP | rs863223580 |
23andMe | rs863223580 |
SNPshot | rs863223580 |
SNPdbe | rs863223580 |
MSV3d | rs863223580 |
GWAS Ctlg | rs863223580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223580(G;G) |
Alt | rs863223580(G;G) |
Reference | Rs863223580(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.127624946T>C |
CLNSRC | |
CLNACC | RCV000198402.1, |