rs201241191
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201241191(A;A) |
Make rs201241191(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 48965836 |
Gene | FTL |
is a | snp |
is | mentioned by |
dbSNP | rs201241191 |
dbSNP (classic) | rs201241191 |
ClinGen | rs201241191 |
ebi | rs201241191 |
HLI | rs201241191 |
Exac | rs201241191 |
Gnomad | rs201241191 |
Varsome | rs201241191 |
LitVar | rs201241191 |
Map | rs201241191 |
PheGenI | rs201241191 |
Biobank | rs201241191 |
1000 genomes | rs201241191 |
hgdp | rs201241191 |
ensembl | rs201241191 |
geneview | rs201241191 |
scholar | rs201241191 |
rs201241191 | |
pharmgkb | rs201241191 |
gwascentral | rs201241191 |
openSNP | rs201241191 |
23andMe | rs201241191 |
SNPshot | rs201241191 |
SNPdbe | rs201241191 |
MSV3d | rs201241191 |
GWAS Ctlg | rs201241191 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201241191(A;A) |
Alt | rs201241191(A;A) |
Reference | Rs201241191(G;G) |
Significance | Probable-Pathogenic |
Disease | sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome |
Variation | info |
Gene | FTL |
CLNDBN | sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.49469093G>A |
CLNSRC | ClinVar |
CLNACC | RCV000144502.1, RCV000311515.1, RCV000395171.1, |