rs28933408
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 |
Make rs28933408(A;A) |
Make rs28933408(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 24122913 |
Gene | THRB |
is a | snp |
is | mentioned by |
dbSNP | rs28933408 |
dbSNP (classic) | rs28933408 |
ClinGen | rs28933408 |
ebi | rs28933408 |
HLI | rs28933408 |
Exac | rs28933408 |
Gnomad | rs28933408 |
Varsome | rs28933408 |
LitVar | rs28933408 |
Map | rs28933408 |
PheGenI | rs28933408 |
Biobank | rs28933408 |
1000 genomes | rs28933408 |
hgdp | rs28933408 |
ensembl | rs28933408 |
geneview | rs28933408 |
scholar | rs28933408 |
rs28933408 | |
pharmgkb | rs28933408 |
gwascentral | rs28933408 |
openSNP | rs28933408 |
23andMe | rs28933408 |
SNPshot | rs28933408 |
SNPdbe | rs28933408 |
MSV3d | rs28933408 |
GWAS Ctlg | rs28933408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933408(A;A) Rs28933408(G;G) |
Alt | rs28933408(A;A) Rs28933408(G;G) |
Reference | Rs28933408(C;C) |
Significance | Pathogenic |
Disease | Thyroid hormone resistance |
Variation | info |
Gene | THRB |
CLNDBN | Thyroid hormone resistance, generalized, autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.24164404G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013377.23, |