RELN, reelin, 5649

N. diseases: 178; N. variants: 52
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: rs115035120
rs115035120 		1.000 0.040 7 103483741 missense variant C/T snv 8.5E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs200124755
rs200124755 		1.000 0.040 7 103498074 splice region variant T/G snv 5.2E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2041475
rs2041475 		7 103547614 intron variant C/T snv 0.85
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs2072403
rs2072403 		1.000 0.120 7 103651777 synonymous variant T/C snv 7.5E-02 9.5E-02
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs2299383
rs2299383 		1.000 0.080 7 103778399 intron variant C/T snv 0.41
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: rs362746
rs362746 		0.925 0.120 7 103539148 synonymous variant A/G snv 3.8E-02 2.1E-02
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs369993428
rs369993428 		1.000 0.040 7 103556983 missense variant T/C snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3808039
rs3808039 		1.000 0.120 7 103510989 synonymous variant T/C snv 4.7E-02 4.6E-02
CUI: C0476254
Disease: Dyslexia
Dyslexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs39399
rs39399 		0.925 0.040 7 103849545 intron variant G/A;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs39399
rs39399 		0.925 0.040 7 103849545 intron variant G/A;T snv
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6965019
rs6965019 		0.925 0.040 7 103758220 intron variant A/G snv 2.2E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6965019
rs6965019 		0.925 0.040 7 103758220 intron variant A/G snv 2.2E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs751409835
rs751409835 		1.000 0.040 7 103486204 stop gained G/A;C snv 1.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11496125
rs11496125 		7 103777110 intron variant C/T snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12375196
rs12375196 		7 103776094 intron variant C/A snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2299383
rs2299383 		1.000 0.080 7 103778399 intron variant C/T snv 0.41
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs362746
rs362746 		0.925 0.120 7 103539148 synonymous variant A/G snv 3.8E-02 2.1E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs362814
rs362814 		1.000 0.040 7 103574673 intron variant T/A snv 0.75
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs39339
rs39339 		1.000 0.040 7 103819488 intron variant T/G snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs540058
rs540058 		1.000 0.040 7 103719273 intron variant T/C snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs661575
rs661575 		1.000 0.040 7 103757660 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2019 2019