rs121918708
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121918708(A;A) |
Make rs121918708(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 24123122 |
Gene | THRB |
is a | snp |
is | mentioned by |
dbSNP | rs121918708 |
dbSNP (classic) | rs121918708 |
ClinGen | rs121918708 |
ebi | rs121918708 |
HLI | rs121918708 |
Exac | rs121918708 |
Gnomad | rs121918708 |
Varsome | rs121918708 |
LitVar | rs121918708 |
Map | rs121918708 |
PheGenI | rs121918708 |
Biobank | rs121918708 |
1000 genomes | rs121918708 |
hgdp | rs121918708 |
ensembl | rs121918708 |
geneview | rs121918708 |
scholar | rs121918708 |
rs121918708 | |
pharmgkb | rs121918708 |
gwascentral | rs121918708 |
openSNP | rs121918708 |
23andMe | rs121918708 |
SNPshot | rs121918708 |
SNPdbe | rs121918708 |
MSV3d | rs121918708 |
GWAS Ctlg | rs121918708 |
Merged from | Rs28934868 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918708(A;A) |
Alt | rs121918708(A;A) |
Reference | Rs121918708(G;G) |
Significance | Pathogenic |
Disease | Thyroid hormone resistance |
Variation | info |
Gene | THRB |
CLNDBN | Thyroid hormone resistance, generalized, autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.24164613C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013396.23, |