rs121918696
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918696(C;T) |
Make rs121918696(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 24127685 |
Gene | THRB |
is a | snp |
is | mentioned by |
dbSNP | rs121918696 |
dbSNP (classic) | rs121918696 |
ClinGen | rs121918696 |
ebi | rs121918696 |
HLI | rs121918696 |
Exac | rs121918696 |
Gnomad | rs121918696 |
Varsome | rs121918696 |
LitVar | rs121918696 |
Map | rs121918696 |
PheGenI | rs121918696 |
Biobank | rs121918696 |
1000 genomes | rs121918696 |
hgdp | rs121918696 |
ensembl | rs121918696 |
geneview | rs121918696 |
scholar | rs121918696 |
rs121918696 | |
pharmgkb | rs121918696 |
gwascentral | rs121918696 |
openSNP | rs121918696 |
23andMe | rs121918696 |
SNPshot | rs121918696 |
SNPdbe | rs121918696 |
MSV3d | rs121918696 |
GWAS Ctlg | rs121918696 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918696(T;T) |
Alt | rs121918696(T;T) |
Reference | Rs121918696(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.24169176G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013384.24, |