Source: GWASCAT

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: rs11083766
rs11083766
MARK4 ; EXOC3L2 ; BLOC1S3
19 45212232 intron variant T/C snv 0.26
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11083766
rs11083766
MARK4 ; EXOC3L2 ; BLOC1S3
19 45212232 intron variant T/C snv 0.26
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11667509
rs11667509
MARK4 ; EXOC3L2 ; BLOC1S3
19 45212934 3 prime UTR variant G/C snv 0.28
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11669910
rs11669910
MARK4 ; EXOC3L2
19 45238075 intron variant A/T snv 0.23
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs11669910
rs11669910
MARK4 ; EXOC3L2
19 45238075 intron variant A/T snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs11669915
rs11669915
MARK4 ; EXOC3L2
19 45238095 intron variant A/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11673000
rs11673000
MARK4 ; EXOC3L2
19 45238753 missense variant C/G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs11673000
rs11673000
MARK4 ; EXOC3L2
19 45238753 missense variant C/G;T snv
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: rs145605569
rs145605569
MARK4 ; EXOC3L2
19 45239644 intron variant C/T snv 0.21
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs17356664
rs17356664
MARK4 ; EXOC3L2
19 45237513 intron variant C/T snv 0.28
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs346750
rs346750
MARK4 ; EXOC3L2
19 45233960 intron variant A/C snv 0.41
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs3803906
rs3803906
MARK4 ; EXOC3L2 ; BLOC1S3
19 45212718 3 prime UTR variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs73036517
rs73036517
MARK4 ; EXOC3L2
19 45241584 intron variant A/G snv 0.20
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs73036517
rs73036517
MARK4 ; EXOC3L2
19 45241584 intron variant A/G snv 0.20
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs73036517
rs73036517
MARK4 ; EXOC3L2
19 45241584 intron variant A/G snv 0.20
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs73036517
rs73036517
MARK4 ; EXOC3L2
19 45241584 intron variant A/G snv 0.20
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs75727214
rs75727214
MARK4 ; EXOC3L2
19 45233891 intron variant G/C snv 9.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11673093
rs11673093
MARK4 ; EXOC3L2
1.000 0.040 19 45238836 synonymous variant G/A snv 0.22
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11673093
rs11673093
MARK4 ; EXOC3L2
1.000 0.040 19 45238836 synonymous variant G/A snv 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2018 2018
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
0.851 0.040 19 45245104 intron variant G/A;C snv
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
0.851 0.040 19 45245104 intron variant G/A;C snv
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
0.851 0.040 19 45245104 intron variant G/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
0.851 0.040 19 45245104 intron variant G/A;C snv
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
MARK4 ; EXOC3L2
0.851 0.040 19 45245104 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs12461144
rs12461144
MARK4 ; EXOC3L2
1.000 0.080 19 45220448 intron variant C/T snv 0.22
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2018 2019