Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555336810
rs1555336810
1.000 14 64411115 missense variant T/C snv
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs1555337681
rs1555337681
1.000 14 64424882 missense variant C/T snv
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs1076991
rs1076991
0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2016 2016
dbSNP: rs1076991
rs1076991
0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17857382
rs17857382
14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs760889414
rs760889414
1.000 14 64419871 stop gained G/T snv 1.6E-05
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.700 1.000 1 2015 2015
dbSNP: rs141210410
rs141210410
1.000 14 64417926 missense variant C/T snv 3.6E-05 7.0E-05
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 1 2011 2011
dbSNP: rs370444838
rs370444838
1.000 14 64411109 missense variant C/T snv 1.3E-04 1.1E-04
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.800 1.000 3 2011 2017
dbSNP: rs34181110
rs34181110
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
Neural tube defect, folate-sensitive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2006
dbSNP: rs34181110
rs34181110
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs34181110
rs34181110
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 1998 1998
dbSNP: rs10498514
rs10498514
14 64432337 intron variant A/C snv 7.4E-02
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests
0.700 1.000 1 2009 2009
dbSNP: rs17824591
rs17824591
1.000 0.080 14 64420993 non coding transcript exon variant G/A snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs56811449
rs56811449
14 64417358 intron variant C/T snv 0.16
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1256146
rs1256146
14 64453947 intron variant G/A snv 0.17
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2281603
rs2281603
14 64459379 intron variant T/C snv 0.20
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs8006686
rs8006686
0.925 0.040 14 64401953 intron variant T/C snv 0.22
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs8006686
rs8006686
0.925 0.040 14 64401953 intron variant T/C snv 0.22
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs8003379
rs8003379
0.882 0.160 14 64406881 intron variant A/C snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs8003379
rs8003379
0.882 0.160 14 64406881 intron variant A/C snv 0.23
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs8003379
rs8003379
0.882 0.160 14 64406881 intron variant A/C snv 0.23
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11627387
rs11627387
1.000 14 64457259 intron variant G/A snv 0.27
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
0.010 1.000 1 2012 2012
dbSNP: rs6573559
rs6573559
14 64456448 intron variant G/T snv 0.31
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2236224
rs2236224
1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2236225
rs2236225
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.857 14 2002 2019