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
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.846 13 1999 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 0.895 19 2000 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.889 18 2000 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 0.750 4 2002 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2002 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 0.900 10 2003 2018
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.050 1.000 5 2003 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.030 1.000 3 2003 2012
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.030 1.000 3 2003 2009
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
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
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2003 2003
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2004 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
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
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2004 2004
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2005 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.040 1.000 4 2005 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 1.000 4 2005 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.020 1.000 2 2005 2007
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
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
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.040 1.000 4 2006 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.010 1.000 1 2006 2006
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0028754
Disease: Obesity
Obesity 		0.040 1.000 4 2007 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 0.500 2 2007 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.020 0.500 2 2007 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
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