Source: CURATED

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: rs8013143
rs8013143
PSMB5
14 23025068 intron variant A/G snv 0.43
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 3 2016 2019
dbSNP: rs8013143
rs8013143
PSMB5
14 23025068 intron variant A/G snv 0.43
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 3 2016 2019
dbSNP: rs113107529
rs113107529
PSMB5
14 23028147 intron variant CAAA/-;CAAACAAA delins
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs113525195
rs113525195
PSMB5
14 23030112 intron variant C/A;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs113525195
rs113525195
PSMB5
14 23030112 intron variant C/A;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8013143
rs8013143
PSMB5
14 23025068 intron variant A/G snv 0.43
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8013143
rs8013143
PSMB5
14 23025068 intron variant A/G snv 0.43
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019