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: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 < 0.001 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		0.010 1.000 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.010 < 0.001 1 2018 2018
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 1.000 1 2018 2018
dbSNP: rs7933285
rs7933285
CAT
11 34455578 intron variant C/T snv 0.22
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7943316
rs7943316
CAT
0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.010 1.000 1 2018 2018
dbSNP: rs7943316
rs7943316
CAT
0.925 0.040 11 34438925 upstream gene variant A/T snv 0.57
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 < 0.001 1 2018 2018
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2019 2019
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2019 2019
dbSNP: rs511895
rs511895
CAT
1.000 0.160 11 34466182 intron variant T/C snv 0.70
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.010 1.000 1 2019 2019