rs1801394, FASTKD3;MTRR

N. diseases: 101
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Avitaminosis
CUI: C0376286
Disease: Avitaminosis
2 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
Primary infertility
CUI: C0553573
Disease: Primary infertility
2 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
Vitamin Deficiency
CUI: C1510471
Disease: Vitamin Deficiency
2 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
Oligoasthenozoospermia
CUI: C3164407
Disease: Oligoasthenozoospermia
6 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2017 2017
Folic Acid Deficiency
CUI: C0016412
Disease: Folic Acid Deficiency
8 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2015 2015
Early childhood caries
CUI: C3714731
Disease: Early childhood caries
8 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2017 2017
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
12 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
Neurodevelopmental Disorders
CUI: C1535926
Disease: Neurodevelopmental Disorders
14 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2007 2007
Stomatitis
CUI: C0038362
Disease: Stomatitis
22 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2016 2016
Deformity
CUI: C0302142
Disease: Deformity
26 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
30 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2013 2017
Meningioma, benign, no ICD-O subtype
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
30 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2017
Meniere Disease
CUI: C0025281
Disease: Meniere Disease
36 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2013 2013
Sudden sensorineural hearing loss
CUI: C4275242
Disease: Sudden sensorineural hearing loss
38 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2013 2013
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2009 2009
Meningioma
CUI: C0025286
Disease: Meningioma
43 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2017 2017
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
45 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2014 2018
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2018 2018
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2006 2006
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.040 1.000 4 2006 2017
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2003 2009
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015