DDX58, DExD/H-box helicase 58, 23586

N. diseases: 144; N. variants: 10
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: rs786204847
rs786204847
1.000 9 32488039 missense variant T/G snv
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2
0.800 0
dbSNP: rs786204848
rs786204848
0.882 0.040 9 32488884 missense variant C/A snv
CUI: C4225380
Disease: SINGLETON-MERTEN SYNDROME 2
SINGLETON-MERTEN SYNDROME 2
0.800 0
dbSNP: rs7045087
rs7045087
9 32455264 downstream gene variant T/C snv 0.33
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs7045087
rs7045087
9 32455264 downstream gene variant T/C snv 0.33
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs7045087
rs7045087
9 32455264 downstream gene variant T/C snv 0.33
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2016 2016
dbSNP: rs10813831
rs10813831
0.925 0.120 9 32526148 missense variant G/A snv 0.21 0.24
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10813831
rs10813831
0.925 0.120 9 32526148 missense variant G/A snv 0.21 0.24
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3205166
rs3205166
0.925 0.040 9 32459452 synonymous variant T/A;G snv 0.35
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
Infections 0.010 1.000 1 2015 2015
dbSNP: rs3205166
rs3205166
0.925 0.040 9 32459452 synonymous variant T/A;G snv 0.35
CUI: C0025007
Disease: Measles
Measles
Infections 0.010 1.000 1 2011 2011
dbSNP: rs3739674
rs3739674
1.000 0.040 9 32526235 upstream gene variant G/C snv 0.57
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease
Infections 0.010 1.000 1 2018 2018
dbSNP: rs669260
rs669260
0.851 0.080 9 32503442 intron variant T/A;C snv
CUI: C0035920
Disease: Rubella
Rubella
Infections 0.010 1.000 1 2014 2014
dbSNP: rs669260
rs669260
0.851 0.080 9 32503442 intron variant T/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs669260
rs669260
0.851 0.080 9 32503442 intron variant T/A;C snv
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
Infections 0.010 1.000 1 2015 2015
dbSNP: rs669260
rs669260
0.851 0.080 9 32503442 intron variant T/A;C snv
CUI: C0025007
Disease: Measles
Measles
Infections 0.010 1.000 1 2014 2014
dbSNP: rs758594231
rs758594231
0.882 0.080 9 32500886 missense variant C/T snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs758594231
rs758594231
0.882 0.080 9 32500886 missense variant C/T snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs758594231
rs758594231
0.882 0.080 9 32500886 missense variant C/T snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs786204847
rs786204847
1.000 9 32488039 missense variant T/G snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs786204848
rs786204848
0.882 0.040 9 32488884 missense variant C/A snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 1.000 1 2015 2015
dbSNP: rs786204848
rs786204848
0.882 0.040 9 32488884 missense variant C/A snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs786204848
rs786204848
0.882 0.040 9 32488884 missense variant C/A snv
CUI: C0017601
Disease: Glaucoma
Glaucoma
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9695310
rs9695310
0.851 0.120 9 32464137 intron variant G/C snv 0.52
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease
Infections 0.010 1.000 1 2018 2018
dbSNP: rs9695310
rs9695310
0.851 0.120 9 32464137 intron variant G/C snv 0.52
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9695310
rs9695310
0.851 0.120 9 32464137 intron variant G/C snv 0.52
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs9695310
rs9695310
0.851 0.120 9 32464137 intron variant G/C snv 0.52
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Infections 0.010 1.000 1 2019 2019