RPS10-NUDT3, RPS10-NUDT3 readthrough, 100529239

N. diseases: 8; 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: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2010 2018
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 2 2010 2013
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 2 2010 2013
dbSNP: rs28847046
rs28847046 		6 34410446 intron variant T/C snv 0.23
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs573582724
rs573582724 		6 34289838 intron variant C/A snv 8.4E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6935129
rs6935129 		6 34403930 intron variant A/G snv 0.92
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs6935129
rs6935129 		6 34403930 intron variant A/G snv 0.92
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs267607021
rs267607021 		1.000 0.080 6 34425219 start lost C/T snv
CUI: C2750081
Disease: Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267607022
rs267607022 		1.000 0.080 6 34421793 stop gained G/A snv
CUI: C2750081
Disease: Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0424101
Disease: Inattention
Inattention 		0.010 1.000 1 2013 2013
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs206936
rs206936 		0.882 0.160 6 34335092 intron variant A/G snv 0.34
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2013 2013