GLRX, glutaredoxin, 2745

N. diseases: 65; N. variants: 2
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: rs8751
rs8751
0.925 0.040 5 95814112 3 prime UTR variant T/C snv 6.1E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs8751
rs8751
0.925 0.040 5 95814112 3 prime UTR variant T/C snv 6.1E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs6556883
rs6556883
1.000 5 95816381 intron variant A/G snv 0.78
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2020 2020