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: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3647902
Disease: Vasculogenic erectile dysfunction
Vasculogenic erectile dysfunction
0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0014869
Disease: Peptic Esophagitis
Peptic Esophagitis
0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma
0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 < 0.001 1 2012 2012
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0162529
Disease: Colitis, Ischemic
Colitis, Ischemic
0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
Multiple Sclerosis, Relapsing-Remitting
0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 < 0.001 1 2018 2018
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0162429
Disease: Malnutrition
Malnutrition
0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies
0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation
0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension
0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0002871
Disease: Anemia
Anemia
0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.010 < 0.001 1 2014 2014
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 1.000 1 2017 2017