TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Disease: GLUCOCORTICOID DEFICIENCY 5 ×
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: rs202059967
rs202059967 		1.000 22 19878372 stop gained A/C;G snv 5.6E-04; 1.2E-05
CUI: C4540522
Disease: GLUCOCORTICOID DEFICIENCY 5
GLUCOCORTICOID DEFICIENCY 5 		0.700 1.000 1 2014 2014