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: 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: 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: 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: rs62118504
rs62118504
MARK4 ; EXOC3L2
1.000 0.080 19 45231493 intron variant A/G snv 0.32
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 2 2018 2019
dbSNP: rs10409138
rs10409138
MARK4 ; PPP1R37
0.925 0.040 19 45121045 intron variant A/G snv 0.15
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.700 1.000 1 2018 2018
dbSNP: rs10409138
rs10409138
MARK4 ; PPP1R37
0.925 0.040 19 45121045 intron variant A/G snv 0.15
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
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: 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: 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: rs620807
rs620807
MARK4 ; BLOC1S3
1.000 0.080 19 45203694 intron variant A/G snv 0.47
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs62118504
rs62118504
MARK4 ; EXOC3L2
1.000 0.080 19 45231493 intron variant A/G snv 0.32
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: 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: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		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: 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: 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: 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: 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