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: rs281865115
rs281865115
MARK4 ; TRAPPC6A ; BLOC1S3
1.000 19 45179427 stop gained C/A snv
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0
dbSNP: rs281865116
rs281865116
MARK4 ; TRAPPC6A ; BLOC1S3
0.925 0.200 19 45179742 frameshift variant C/- delins
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.700 0
dbSNP: rs281865116
rs281865116
MARK4 ; TRAPPC6A ; BLOC1S3
0.925 0.200 19 45179742 frameshift variant C/- delins
CUI: C3888026
Disease: HERMANSKY-PUDLAK SYNDROME 8
HERMANSKY-PUDLAK SYNDROME 8 		0.700 0
dbSNP: rs780763668
rs780763668
MARK4
1.000 0.080 19 45280710 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
0.882 0.120 19 45227667 frameshift variant -/G delins
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
0.882 0.120 19 45227667 frameshift variant -/G delins
CUI: C0730379
Disease: Anhydramnios
Anhydramnios 		0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
0.882 0.120 19 45227667 frameshift variant -/G delins
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.700 0
dbSNP: rs886039793
rs886039793
MARK4 ; EXOC3L2
0.882 0.120 19 45227667 frameshift variant -/G delins
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs1048699
rs1048699
MARK4 ; PPP1R37
1.000 0.080 19 45147128 3 prime UTR variant C/T snv 9.0E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1114832
rs1114832
MARK4 ; PPP1R37
1.000 0.080 19 45132943 intron variant C/T snv 9.2E-02
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
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: rs17643262
rs17643262
MARK4 ; PPP1R37
1.000 0.080 19 45128558 intron variant G/A snv 9.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 3 2011 2018
dbSNP: rs10416371
rs10416371
MARK4 ; NKPD1 ; LOC105372420
1.000 0.080 19 45156878 intron variant A/C;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2011 2012
dbSNP: rs10415983
rs10415983
MARK4 ; BLOC1S3
1.000 0.080 19 45208340 intron variant C/T snv 0.26
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2011 2011
dbSNP: rs10422797
rs10422797
MARK4 ; EXOC3L2
1.000 0.080 19 45222848 intron variant T/C snv 8.9E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2011 2011
dbSNP: rs1048699
rs1048699
MARK4 ; PPP1R37
1.000 0.080 19 45147128 3 prime UTR variant C/T snv 9.0E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2011 2011
dbSNP: rs1114831
rs1114831
MARK4 ; PPP1R37
1.000 0.080 19 45133061 intron variant C/A snv 9.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2011 2011
dbSNP: rs1114832
rs1114832
MARK4 ; PPP1R37
1.000 0.080 19 45132943 intron variant C/T snv 9.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2011 2011
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: rs597668
rs597668
MARK4 ; BLOC1S3
0.925 0.080 19 45205630 intron variant T/A;C;G snv
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.700 1.000 1 2012 2012
dbSNP: rs346763
rs346763
MARK4 ; EXOC3L2
1.000 0.080 19 45226017 intron variant G/A snv 0.10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 1.000 2 2014 2018
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