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: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2017 2019
dbSNP: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2017 2019
dbSNP: rs566629828
rs566629828
SMIM1
1 3775434 frameshift variant AGCCTAGGGGCTGTGTC/- delins 9.2E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs566629828
rs566629828
SMIM1
1 3775434 frameshift variant AGCCTAGGGGCTGTGTC/- delins 9.2E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs1175549
rs1175549
SMIM1
1 3775163 intron variant A/C snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016