rs121908866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a congenital hypothyroidism mutation; 3.3x higher risk for hypothyroidism |
(G;G) | 0 | common in clinvar |
Make rs121908866(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 81143695 |
Gene | LOC101928462, TSHR |
is a | snp |
is | mentioned by |
dbSNP | rs121908866 |
dbSNP (classic) | rs121908866 |
ClinGen | rs121908866 |
ebi | rs121908866 |
HLI | rs121908866 |
Exac | rs121908866 |
Gnomad | rs121908866 |
Varsome | rs121908866 |
LitVar | rs121908866 |
Map | rs121908866 |
PheGenI | rs121908866 |
Biobank | rs121908866 |
1000 genomes | rs121908866 |
hgdp | rs121908866 |
ensembl | rs121908866 |
geneview | rs121908866 |
scholar | rs121908866 |
rs121908866 | |
pharmgkb | rs121908866 |
gwascentral | rs121908866 |
openSNP | rs121908866 |
23andMe | rs121908866 |
SNPshot | rs121908866 |
SNPdbe | rs121908866 |
MSV3d | rs121908866 |
GWAS Ctlg | rs121908866 |
Max Magnitude | 3 |
aka c.1637G>A (p.Trp546Ter or W546X)
Inherited recessively, in Caucasians the W546X variant may be among one of the most common congenital hypothyroidism mutations; this variant is also reported as associated with a 3.3x higher risk of hypothyroidism.[PMID 30665703]
See also OMIM 603372.0010
ClinVar | |
---|---|
Risk | rs121908866(A;A) |
Alt | rs121908866(A;A) |
Reference | Rs121908866(G;G) |
Significance | Pathogenic |
Disease | Hypothyroidism Hyperthyroidism not provided Congenital hypothyroidism |
Variation | info |
Gene | LOC101928431 TSHR |
CLNDBN | Hypothyroidism, congenital, nongoitrous, 1 Hyperthyroidism, nonautoimmune not provided Congenital hypothyroidism |
Reversed | 0 |
HGVS | NC_000014.8:g.81610039G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006809.4, RCV000292905.1, RCV000333686.1, RCV000350279.1, |