Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13720
rs13720
CTSZ ; NELFCD
20 58995513 3 prime UTR variant G/A snv 0.83
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs199825459
rs199825459
CTSZ
20 58997654 missense variant A/G snv 4.9E-03 5.0E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs571971615
rs571971615
CTSZ
20 59003687 intron variant A/G snv 1.5E-03
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs13720
rs13720
CTSZ ; NELFCD
20 58995513 3 prime UTR variant G/A snv 0.83
CUI: C0022346
Disease: Icterus
Icterus 		0.010 1.000 1 2018 2018
dbSNP: rs34069356
rs34069356
CTSZ
0.925 0.080 20 58995705 missense variant C/T snv 1.1E-03 4.3E-03
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2011 2011
dbSNP: rs34069356
rs34069356
CTSZ
0.925 0.080 20 58995705 missense variant C/T snv 1.1E-03 4.3E-03
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2013 2013