rs28999971
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28999971(A;A) |
Make rs28999971(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 24127603 |
Gene | THRB |
is a | snp |
is | mentioned by |
dbSNP | rs28999971 |
dbSNP (classic) | rs28999971 |
ClinGen | rs28999971 |
ebi | rs28999971 |
HLI | rs28999971 |
Exac | rs28999971 |
Gnomad | rs28999971 |
Varsome | rs28999971 |
LitVar | rs28999971 |
Map | rs28999971 |
PheGenI | rs28999971 |
Biobank | rs28999971 |
1000 genomes | rs28999971 |
hgdp | rs28999971 |
ensembl | rs28999971 |
geneview | rs28999971 |
scholar | rs28999971 |
rs28999971 | |
pharmgkb | rs28999971 |
gwascentral | rs28999971 |
openSNP | rs28999971 |
23andMe | rs28999971 |
SNPshot | rs28999971 |
SNPdbe | rs28999971 |
MSV3d | rs28999971 |
GWAS Ctlg | rs28999971 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28999971(A;A) |
Alt | rs28999971(A;A) |
Reference | Rs28999971(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.24169094C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013373.22, |