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: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2016 2016
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.010 1.000 1 2008 2008
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2017 2017
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: 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: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		0.010 1.000 1 2016 2016
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: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		0.010 1.000 1 2015 2015
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: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
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: rs1212131663
rs1212131663
CAT
1.000 0.080 11 34439050 stop gained C/T snv 7.0E-06
CUI: C0268419
Disease: Acatalasia
Acatalasia 		0.020 1.000 2 2012 2012
dbSNP: rs4756146
rs4756146
CAT
0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs4756146
rs4756146
CAT
0.925 0.080 11 34442192 intron variant T/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1402522059
rs1402522059
CAT
1.000 0.080 11 34449312 missense variant C/G;T snv 4.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.010 < 0.001 1 1997 1997
dbSNP: rs1428168076
rs1428168076
CAT
1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2002 2002
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: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.010 1.000 1 2012 2012
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2012 2012
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2015 2015
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2015 2015
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 1.000 1 2012 2012