TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
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: rs5748469
rs5748469
0.882 0.120 22 19919576 missense variant C/A snv 0.45 0.36
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
Musculoskeletal Diseases 0.020 < 0.001 2 2013 2016
dbSNP: rs5746841
rs5746841
0.925 0.040 22 19878161 missense variant C/A snv
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
Musculoskeletal Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs866667235
rs866667235
1.000 0.040 22 19898121 missense variant A/G snv
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease
Musculoskeletal Diseases 0.010 1.000 1 2010 2010