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: rs619865
rs619865
EIF6 ; MMP24OS ; MMP24-AS1-EDEM2
1.000 0.040 20 35279894 intron variant A/G snv 0.94 0.94
CUI: C0016689
Disease: Freckles
Freckles 		0.700 1.000 1 2010 2010
dbSNP: rs619865
rs619865
EIF6 ; MMP24OS ; MMP24-AS1-EDEM2
1.000 0.040 20 35279894 intron variant A/G snv 0.94 0.94
CUI: C0025209
Disease: Melanosis
Melanosis 		0.700 1.000 1 2010 2010
dbSNP: rs352493
rs352493
SIRT6 ; ANKRD24
0.882 0.040 19 4180839 missense variant C/G;T snv 0.88
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 1.000 1 2016 2016
dbSNP: rs352493
rs352493
SIRT6 ; ANKRD24
0.882 0.040 19 4180839 missense variant C/G;T snv 0.88
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2016 2016
dbSNP: rs352493
rs352493
SIRT6 ; ANKRD24
0.882 0.040 19 4180839 missense variant C/G;T snv 0.88
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2016 2016
dbSNP: rs6809699
rs6809699
P2RY12 ; MED12L
1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 < 0.001 1 2008 2008
dbSNP: rs6809699
rs6809699
P2RY12 ; MED12L
1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 < 0.001 1 2008 2008
dbSNP: rs2016575
rs2016575
SEMA3G ; LOC105377091
3 52443064 missense variant T/C snv 0.86 0.81
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2017 2018
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2738464
rs2738464
LDLR ; SPC24
1.000 0.120 19 11131631 3 prime UTR variant G/C snv 0.82 0.80
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs680729
rs680729
PCA3 ; PRUNE2
9 76707804 synonymous variant A/G snv 0.80 0.76
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 1.000 1 2018 2018
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		0.010 1.000 1 2018 2018
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 1.000 1 2013 2013
dbSNP: rs12355840
rs12355840
MIR202 ; MIR202HG
0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2236375
rs2236375
DPH1 ; OVCA2
1.000 0.040 17 2040594 synonymous variant T/C snv 0.79 0.79
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs2302759
rs2302759
CYLD ; LOC105371251
1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2302759
rs2302759
CYLD ; LOC105371251
1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2007 2007
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
10 113850156 missense variant C/A;G snv 4.0E-06; 0.77
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 1.000 1 2018 2018
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
10 113850156 missense variant C/A;G snv 4.0E-06; 0.77
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.030 0.333 3 2008 2019
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.010 1.000 1 2016 2016
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 < 0.001 1 2013 2013