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: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 1.000 1 2016 2016
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss
0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.010 1.000 1 2018 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0302142
Disease: Deformity
Deformity
0.010 1.000 1 2018 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0004509
Disease: Azoospermia
Azoospermia
0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2018 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous
0.010 1.000 1 2005 2005
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0025281
Disease: Meniere Disease
Meniere Disease
0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 < 0.001 1 2004 2004
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency
0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.010 < 0.001 1 2016 2016
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 < 0.001 1 2018 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.010 1.000 1 2003 2003
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 1.000 1 2009 2009
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.010 1.000 1 2007 2007
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 1.000 1 2008 2008