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rs121908866

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38 38.1/141
Chromosome14
Position81143695
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908866
dbSNP (classic)rs121908866
ClinGenrs121908866
ebirs121908866
HLIrs121908866
Exacrs121908866
Gnomadrs121908866
Varsomers121908866
LitVarrs121908866
Maprs121908866
PheGenIrs121908866
Biobankrs121908866
1000 genomesrs121908866
hgdprs121908866
ensemblrs121908866
geneviewrs121908866
scholarrs121908866
googlers121908866
pharmgkbrs121908866
gwascentralrs121908866
openSNPrs121908866
23andMers121908866
SNPshotrs121908866
SNPdbers121908866
MSV3drs121908866
GWAS Ctlgrs121908866
Max Magnitude3

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 30665703OA-icon.png]

See also OMIM 603372.0010

OMIM603372
Desc
Variant0010
Relatedalso
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,