rs886037622
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs886037622(C;T) |
Make rs886037622(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 48965326 |
Gene | FTL |
is a | snp |
is | mentioned by |
dbSNP | rs886037622 |
dbSNP (classic) | rs886037622 |
ClinGen | rs886037622 |
ebi | rs886037622 |
HLI | rs886037622 |
Exac | rs886037622 |
Gnomad | rs886037622 |
Varsome | rs886037622 |
LitVar | rs886037622 |
Map | rs886037622 |
PheGenI | rs886037622 |
Biobank | rs886037622 |
1000 genomes | rs886037622 |
hgdp | rs886037622 |
ensembl | rs886037622 |
geneview | rs886037622 |
scholar | rs886037622 |
rs886037622 | |
pharmgkb | rs886037622 |
gwascentral | rs886037622 |
openSNP | rs886037622 |
23andMe | rs886037622 |
SNPshot | rs886037622 |
SNPdbe | rs886037622 |
MSV3d | rs886037622 |
GWAS Ctlg | rs886037622 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886037622(T;T) |
Alt | rs886037622(T;T) |
Reference | Rs886037622(C;C) |
Significance | Pathogenic |
Disease | Hyperferritinemia cataract syndrome |
Variation | info |
Gene | FTL |
CLNDBN | Hyperferritinemia cataract syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.49468583C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017941.28, |