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: 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: 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: 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: 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: 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: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
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: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4023493
Disease: Beta-EEG
Beta-EEG 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4023494
Disease: Alpha-EEG
Alpha-EEG 		0.700 0
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: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.700 0
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: 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: 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