rs121908085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908085(A;A) |
Make rs121908085(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 1503956 |
Gene | TPO |
is a | snp |
is | mentioned by |
dbSNP | rs121908085 |
dbSNP (classic) | rs121908085 |
ClinGen | rs121908085 |
ebi | rs121908085 |
HLI | rs121908085 |
Exac | rs121908085 |
Gnomad | rs121908085 |
Varsome | rs121908085 |
LitVar | rs121908085 |
Map | rs121908085 |
PheGenI | rs121908085 |
Biobank | rs121908085 |
1000 genomes | rs121908085 |
hgdp | rs121908085 |
ensembl | rs121908085 |
geneview | rs121908085 |
scholar | rs121908085 |
rs121908085 | |
pharmgkb | rs121908085 |
gwascentral | rs121908085 |
openSNP | rs121908085 |
23andMe | rs121908085 |
SNPshot | rs121908085 |
SNPdbe | rs121908085 |
MSV3d | rs121908085 |
GWAS Ctlg | rs121908085 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908085(A;A) |
Alt | rs121908085(A;A) |
Reference | Rs121908085(G;G) |
Significance | Pathogenic |
Disease | Deficiency of iodide peroxidase Congenital hypothyroidism |
Variation | info |
Gene | TPO |
CLNDBN | Deficiency of iodide peroxidase Congenital hypothyroidism |
Reversed | 0 |
HGVS | NC_000002.11:g.1507728G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004261.3, RCV000301840.1, |