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: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
HTR2C ; MIR1912 ; MIR1264
0.882 0.080 X 114650913 intron variant A/G snv 0.12
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2018 2018
dbSNP: rs807181
rs807181
PSMD10 ; ATG4A
0.851 0.120 X 108090354 intron variant G/C;T snv
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 1.000 1 2018 2018
dbSNP: rs807181
rs807181
PSMD10 ; ATG4A
0.851 0.120 X 108090354 intron variant G/C;T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs807181
rs807181
PSMD10 ; ATG4A
0.851 0.120 X 108090354 intron variant G/C;T snv
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2018 2018
dbSNP: rs807181
rs807181
PSMD10 ; ATG4A
0.851 0.120 X 108090354 intron variant G/C;T snv
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2018 2018
dbSNP: rs121434532
rs121434532
NAGA ; LOC107985551
1.000 0.120 22 42067136 missense variant G/C snv 7.4E-04 5.1E-04
CUI: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		0.800 1.000 2 1990 1996
dbSNP: rs11912763
rs11912763
MYH9 ; MIR6819
1.000 0.160 22 36288676 intron variant G/A snv 1.5E-02 6.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs11912763
rs11912763
MYH9 ; MIR6819
1.000 0.160 22 36288676 intron variant G/A snv 1.5E-02 6.0E-02
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		0.010 1.000 1 2010 2010
dbSNP: rs13053731
rs13053731
MYH9 ; MIR6819
22 36286661 intron variant G/A snv 5.7E-02
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2017 2017
dbSNP: rs132873
rs132873
NUP50 ; LOC112267891
1.000 0.040 22 45170821 intron variant C/T snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs132875
rs132875
NUP50 ; LOC112267891
1.000 0.040 22 45171031 5 prime UTR variant C/A;G snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs132881
rs132881
NUP50 ; LOC112267891
1.000 0.040 22 45171699 non coding transcript exon variant C/A snv 0.21 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs132883
rs132883
NUP50 ; LOC112267891
1.000 0.040 22 45172630 intron variant G/T snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs132884
rs132884
NUP50 ; LOC112267891
1.000 0.040 22 45173105 intron variant A/G snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs132887
rs132887
NUP50 ; LOC112267891
22 45174224 intron variant G/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs17548707
rs17548707
NUP50 ; LOC112267891
1.000 0.040 22 45175565 intron variant C/T snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs185004002
rs185004002
RFPL1S ; LOC107985541
1.000 0.080 22 29457633 intron variant C/T snv 1.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs2071725
rs2071725
SCUBE1 ; LOC105373051
1.000 0.080 22 43213754 intron variant G/A snv 0.14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2008 2008
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2018 2018
dbSNP: rs2269529
rs2269529
MYH9 ; MIR6819
0.851 0.200 22 36288308 missense variant T/C snv 0.26 0.18
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2018 2018