RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
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: rs1555565243
rs1555565243 		1.000 17 17794617 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2004 2016
dbSNP: rs1555565243
rs1555565243 		1.000 17 17794617 frameshift variant CT/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 2004 2016
dbSNP: rs1555565243
rs1555565243 		1.000 17 17794617 frameshift variant CT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2004 2016
dbSNP: rs1555565426
rs1555565426 		17 17795180 frameshift variant CCTG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2004 2016
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.840 0.500 4 2011 2019
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2008
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2013 2018
dbSNP: rs10687766
rs10687766 		17 17688488 intron variant -/TAATAA delins
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs112546679
rs112546679 		17 17725069 intron variant C/T snv 2.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11654081
rs11654081 		1.000 0.040 17 17804815 intron variant T/C snv 0.51
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11656775
rs11656775 		1.000 0.080 17 17751005 intron variant A/G snv 0.61
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2013 2013
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11868035
rs11868035 		0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs12942059
rs12942059 		17 17741050 intron variant G/A snv 0.29
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs12945601
rs12945601 		1.000 0.080 17 17750097 intron variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13306741
rs13306741 		1.000 0.040 17 17811708 3 prime UTR variant C/A;T snv 4.3E-03; 7.4E-06
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2016 2016