rs139732572
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs139732572(A;G) |
Make rs139732572(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 48965508 |
Gene | FTL |
is a | snp |
is | mentioned by |
dbSNP | rs139732572 |
dbSNP (classic) | rs139732572 |
ClinGen | rs139732572 |
ebi | rs139732572 |
HLI | rs139732572 |
Exac | rs139732572 |
Gnomad | rs139732572 |
Varsome | rs139732572 |
LitVar | rs139732572 |
Map | rs139732572 |
PheGenI | rs139732572 |
Biobank | rs139732572 |
1000 genomes | rs139732572 |
hgdp | rs139732572 |
ensembl | rs139732572 |
geneview | rs139732572 |
scholar | rs139732572 |
rs139732572 | |
pharmgkb | rs139732572 |
gwascentral | rs139732572 |
openSNP | rs139732572 |
23andMe | rs139732572 |
SNPshot | rs139732572 |
SNPdbe | rs139732572 |
MSV3d | rs139732572 |
GWAS Ctlg | rs139732572 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139732572(G;G) |
Alt | rs139732572(G;G) |
Reference | Rs139732572(A;A) |
Significance | Pathogenic |
Disease | L-ferritin deficiency |
Variation | info |
Gene | FTL |
CLNDBN | L-ferritin deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.49468765A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000082857.3, |