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: 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: 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: 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: 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: 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: rs34717629
rs34717629 		17 17707090 intron variant G/A snv 0.13
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs3818717
rs3818717 		17 17803791 synonymous variant T/C snv 0.42 0.42
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3818717
rs3818717 		17 17803791 synonymous variant T/C snv 0.42 0.42
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4925114
rs4925114 		0.925 0.080 17 17807956 intron variant A/G snv 0.53
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs4925114
rs4925114 		0.925 0.080 17 17807956 intron variant A/G snv 0.53
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4925114
rs4925114 		0.925 0.080 17 17807956 intron variant A/G snv 0.53
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4925114
rs4925114 		0.925 0.080 17 17807956 intron variant A/G snv 0.53
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs62064086
rs62064086 		1.000 0.040 17 17728480 intron variant A/G snv 0.14
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7219213
rs7219213 		17 17735447 intron variant G/A;C snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs104894633
rs104894633 		1.000 0.080 17 17798371 missense variant G/A snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894634
rs104894634 		1.000 0.080 17 17797633 missense variant A/C;G snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1135401792
rs1135401792 		1.000 0.080 17 17795909 frameshift variant AAGA/- delins
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0