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: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 0.895 19 2000 2017
dbSNP: rs1801394
rs1801394
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
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
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
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0021364
Disease: Male infertility
Male infertility
0.060 0.667 6 2014 2019
dbSNP: rs1801394
rs1801394
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
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
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
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394
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
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
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394
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
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
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
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.030 1.000 3 2015 2020
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.030 1.000 3 2014 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
Malignant neoplasm of colon and/or rectum
0.030 1.000 3 2002 2017
dbSNP: rs1801394
rs1801394
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
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
0.030 1.000 3 2013 2017
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.020 0.500 2 2008 2018
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 1.000 2 2009 2016
dbSNP: rs1801394
rs1801394
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.020 1.000 2 2017 2019