NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
Source: ALL
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: rs121917865
rs121917865
1.000 0.040 19 49908636 missense variant T/G snv
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs1299491
rs1299491
19 49916142 intron variant A/C snv 0.70
CUI: C0025303
Disease: Meningococcal Infections
Meningococcal Infections
Infections 0.700 1.000 1 2010 2010
dbSNP: rs372446928
rs372446928
0.925 0.200 19 49909008 missense variant G/A snv 1.6E-05
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs372446928
rs372446928
0.925 0.200 19 49909008 missense variant G/A snv 1.6E-05
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs745557509
rs745557509
1.000 0.080 19 49909768 missense variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs753716740
rs753716740
0.925 0.200 19 49909002 missense variant G/A snv 4.0E-06
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs753716740
rs753716740
0.925 0.200 19 49909002 missense variant G/A snv 4.0E-06
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs756915170
rs756915170
19 49909654 missense variant T/C snv 4.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs756915170
rs756915170
19 49909654 missense variant T/C snv 4.0E-06
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
Nervous System Diseases 0.010 1.000 1 2018 2018