Disease: Generalized Thyroid Hormone Resistance
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs189261858
LOC101928462 ; TSHR
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 8
rs121918690
THRB
0.882 0.040 3 24127694 missense variant C/T snv 3
rs1405414838
RGR ; LRIT1
0.925 0.040 10 84232835 missense variant C/T snv 2