rs121918706, THRB

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
CUI: C2937288
Disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
40 0.925 0.040 3 24143511 missense variant C/T snv 0.700 0
Generalized Thyroid Hormone Resistance
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
34 0.925 0.040 3 24143511 missense variant C/T snv 0.020 1.000 2 1997 2003