THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs746765465
rs746765465
1.000 17 40089359 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2012 2016
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 9 2012 2016