rs121908082
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908082(C;T) |
Make rs121908082(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 1487841 |
Gene | TPO |
is a | snp |
is | mentioned by |
dbSNP | rs121908082 |
dbSNP (classic) | rs121908082 |
ClinGen | rs121908082 |
ebi | rs121908082 |
HLI | rs121908082 |
Exac | rs121908082 |
Gnomad | rs121908082 |
Varsome | rs121908082 |
LitVar | rs121908082 |
Map | rs121908082 |
PheGenI | rs121908082 |
Biobank | rs121908082 |
1000 genomes | rs121908082 |
hgdp | rs121908082 |
ensembl | rs121908082 |
geneview | rs121908082 |
scholar | rs121908082 |
rs121908082 | |
pharmgkb | rs121908082 |
gwascentral | rs121908082 |
openSNP | rs121908082 |
23andMe | rs121908082 |
SNPshot | rs121908082 |
SNPdbe | rs121908082 |
MSV3d | rs121908082 |
GWAS Ctlg | rs121908082 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908082(A;A) rs121908082(G;G) rs121908082(T;T) |
Alt | rs121908082(A;A) rs121908082(G;G) rs121908082(T;T) |
Reference | Rs121908082(C;C) |
Significance | Pathogenic |
Disease | Deficiency of iodide peroxidase |
Variation | info |
Gene | TPO |
CLNDBN | Deficiency of iodide peroxidase |
Reversed | 0 |
HGVS | NC_000002.11:g.1491613C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004257.3, |