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: 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
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		0.010 1.000 1 2006 2006
dbSNP: rs769217
rs769217
CAT
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		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: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		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: C0042900
Disease: Vitiligo
Vitiligo 		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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 < 0.001 1 2006 2006
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: 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: rs7947841
rs7947841
CAT
11 34470133 intron variant G/A snv 1.0E-01
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2013 2013