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: rs1883991
rs1883991
A4GALT
22 42716812 intron variant C/A;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs2143918
rs2143918
A4GALT
22 42718014 intron variant A/C snv 0.41
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2143918
rs2143918
A4GALT
22 42718014 intron variant A/C snv 0.41
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs2143919
rs2143919
A4GALT
22 42718034 intron variant G/C snv 0.49
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs5758884
rs5758884
A4GALT
22 42709150 intron variant G/A;C;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs5758884
rs5758884
A4GALT
22 42709150 intron variant G/A;C;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs5758891
rs5758891
A4GALT
22 42714109 intron variant A/G snv 0.49
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs5758896
rs5758896
A4GALT
22 42719570 intron variant T/C snv 0.55
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.700 1.000 1 2019 2019
dbSNP: rs5758896
rs5758896
A4GALT
22 42719570 intron variant T/C snv 0.55
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs5758896
rs5758896
A4GALT
22 42719570 intron variant T/C snv 0.55
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs66781836
rs66781836
A4GALT
22 42719514 intron variant TTCT/-;TTCTTTCT delins
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs67162484
rs67162484
A4GALT
22 42719514 intron variant TTCT/-;TTCTTTCT delins 0.41
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7284681
rs7284681
A4GALT
22 42700990 intron variant G/C snv 0.31
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs738527
rs738527
A4GALT
22 42716955 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs8138197
rs8138197
A4GALT
22 42718545 non coding transcript exon variant G/A snv 0.41
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs8139674
rs8139674
A4GALT
22 42713833 intron variant C/A snv 0.38
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs397514502
rs397514502
A4GALT
1.000 22 42693321 missense variant G/C snv
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME 		0.700 0
dbSNP: rs778598915
rs778598915
A4GALT
1.000 0.080 22 42693910 synonymous variant G/A;T snv 2.2E-05
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.700 0