rs121918703
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918703(C;C) |
Make rs121918703(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 24122934 |
Gene | THRB |
is a | snp |
is | mentioned by |
dbSNP | rs121918703 |
dbSNP (classic) | rs121918703 |
ClinGen | rs121918703 |
ebi | rs121918703 |
HLI | rs121918703 |
Exac | rs121918703 |
Gnomad | rs121918703 |
Varsome | rs121918703 |
LitVar | rs121918703 |
Map | rs121918703 |
PheGenI | rs121918703 |
Biobank | rs121918703 |
1000 genomes | rs121918703 |
hgdp | rs121918703 |
ensembl | rs121918703 |
geneview | rs121918703 |
scholar | rs121918703 |
rs121918703 | |
pharmgkb | rs121918703 |
gwascentral | rs121918703 |
openSNP | rs121918703 |
23andMe | rs121918703 |
SNPshot | rs121918703 |
SNPdbe | rs121918703 |
MSV3d | rs121918703 |
GWAS Ctlg | rs121918703 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918703(C;C) |
Alt | rs121918703(C;C) |
Reference | Rs121918703(T;T) |
Significance | Pathogenic |
Disease | Thyroid hormone resistance |
Variation | info |
Gene | THRB |
CLNDBN | Thyroid hormone resistance, generalized, autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.24164425A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013391.22, |