rs28933408, THRB

N. diseases: 3
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 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.800 1.000 19 1989 2009
Generalized Thyroid Hormone Resistance
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
34 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.060 1.000 6 1994 2019
Myotonic Dystrophy
CUI: C0027126
Disease: Myotonic Dystrophy
4 0.882 0.160 3 24122913 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2019 2019