rs201058219
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201058219(A;A) |
Make rs201058219(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 48474565 |
Gene | FBN1 |
is a | snp |
is | mentioned by |
dbSNP | rs201058219 |
dbSNP (classic) | rs201058219 |
ClinGen | rs201058219 |
ebi | rs201058219 |
HLI | rs201058219 |
Exac | rs201058219 |
Gnomad | rs201058219 |
Varsome | rs201058219 |
LitVar | rs201058219 |
Map | rs201058219 |
PheGenI | rs201058219 |
Biobank | rs201058219 |
1000 genomes | rs201058219 |
hgdp | rs201058219 |
ensembl | rs201058219 |
geneview | rs201058219 |
scholar | rs201058219 |
rs201058219 | |
pharmgkb | rs201058219 |
gwascentral | rs201058219 |
openSNP | rs201058219 |
23andMe | rs201058219 |
SNPshot | rs201058219 |
SNPdbe | rs201058219 |
MSV3d | rs201058219 |
GWAS Ctlg | rs201058219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201058219(A;A) rs201058219(T;T) |
Alt | rs201058219(A;A) rs201058219(T;T) |
Reference | Rs201058219(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBN1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.48766762G>T |
CLNSRC | |
CLNACC | RCV000181504.1, |