RS121908869 TSHR

Health Risk Chr 14:80955801 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Hypothyroidism due to TSH receptor mutations
Epilepsy
Developmental delay
autistic features
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Epilepsy
Developmental delay
autistic features
Familial hyperthyroidism due to mutations in TSH receptor
Population Frequencies
gnomAD ALL
100%
Other Variants in TSHR
rs121908859 rs121908860 rs121908861 rs121908862 rs121908863 rs121908864 rs28937584 rs121908865 rs121908866 rs121908867
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