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: rs1554404013
rs1554404013 		1.000 7 103697970 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2000 2015
dbSNP: rs1554404338
rs1554404338 		1.000 7 103701000 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2000 2015
dbSNP: rs3914132
rs3914132 		1.000 0.040 7 103886922 intron variant C/A;T snv
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		Otorhinolaryngologic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs528528
rs528528 		0.925 0.080 7 103748638 intron variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2015 2016
dbSNP: rs12705169
rs12705169 		1.000 0.040 7 103936441 intron variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1275980031
rs1275980031 		1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1275980031
rs1275980031 		1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1470522542
rs1470522542 		1.000 0.040 7 103989335 missense variant G/A;C snv 5.0E-06; 5.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs201044262
rs201044262 		1.000 7 103640597 missense variant G/A;C snv 1.6E-04
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 1.000 1 2015 2015
dbSNP: rs362691
rs362691 		0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs362691
rs362691 		0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs362691
rs362691 		0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
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: 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: rs528528
rs528528 		0.925 0.080 7 103748638 intron variant T/A;C snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
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
dbSNP: rs73714410
rs73714410 		1.000 0.040 7 103489775 missense variant C/G;T snv 6.0E-05; 3.1E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
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: rs761198705
rs761198705 		1.000 0.040 7 103490698 missense variant G/C snv 4.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs768119894
rs768119894 		1.000 7 103636370 missense variant T/C snv 1.6E-05
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.800 1.000 1 2015 2015
dbSNP: rs587780435
rs587780435 		1.000 0.080 7 103565295 stop gained G/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780436
rs587780436 		1.000 0.080 7 103565279 frameshift variant -/GGAGAGTGGAAGGT delins
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780437
rs587780437 		1.000 0.080 7 103523390 splice donor variant C/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs794727996
rs794727996 		1.000 7 103635498 missense variant G/T snv
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0