rs121918690, 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
40 0.882 0.040 3 24127694 missense variant C/T snv 0.800 1.000 19 1989 2009
Generalized Thyroid Hormone Resistance
34 0.882 0.040 3 24127694 missense variant C/T snv 0.010 1.000 1 1997 1997
Thyroid Hormone Resistance Syndrome
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
5 0.882 0.040 3 24127694 missense variant C/T snv 0.010 1.000 1 2016 2016