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: 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: 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: 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: rs12459847
rs12459847
MARK4
19 45247899 intron variant G/C snv 0.19
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12459847
rs12459847
MARK4
19 45247899 intron variant G/C snv 0.19
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs12459847
rs12459847
MARK4
19 45247899 intron variant G/C snv 0.19
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs12461065
rs12461065
MARK4 ; PPP1R37
1.000 0.080 19 45102050 intron variant C/T snv 0.50
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs12463049
rs12463049
MARK4 ; BLOC1S3
1.000 0.080 19 45187692 non coding transcript exon variant C/G snv 0.13
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs12971645
rs12971645
MARK4
19 45304687 3 prime UTR variant G/A snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12982781
rs12982781
MARK4
19 45283297 intron variant T/C snv 0.33
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs138137383
rs138137383
MARK4 ; PPP1R37
1.000 0.080 19 45098343 intron variant G/A;C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
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: rs145903417
rs145903417
MARK4 ; PPP1R37
1.000 0.080 19 45125846 intron variant A/G snv 1.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs149495476
rs149495476
MARK4 ; BLOC1S3
1.000 0.080 19 45193381 intron variant G/T snv 1.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs149553138
rs149553138
MARK4 ; TRAPPC6A
19 45169220 intron variant G/A snv 2.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs151165225
rs151165225
MARK4
19 45257662 intron variant C/T snv 0.19
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit 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: rs2159324
rs2159324
MARK4 ; BLOC1S3
19 45192480 intron variant T/C snv 0.36
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2159324
rs2159324
MARK4 ; BLOC1S3
19 45192480 intron variant T/C snv 0.36
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2009 2009
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: rs346757
rs346757
MARK4 ; EXOC3L2
1.000 0.080 19 45222190 intron variant G/C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2019 2019
dbSNP: rs346758
rs346758
MARK4 ; EXOC3L2
1.000 0.080 19 45222481 intron variant A/G snv 0.25
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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: rs536518226
rs536518226
MARK4 ; PPP1R37
1.000 0.080 19 45137507 intron variant G/C snv 7.8E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018