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: rs10233848
rs10233848 		7 103482198 non coding transcript exon variant A/G snv 0.42
CUI: C0596887
Disease: mathematical ability
mathematical ability 		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: 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: rs2041475
rs2041475 		7 103547614 intron variant C/T snv 0.85
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs2965087
rs2965087 		7 103471538 intron variant T/C snv 0.45
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs6956101
rs6956101 		7 103508155 intron variant A/G snv 0.17
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
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: rs78623212
rs78623212 		7 103667180 intron variant C/T snv 1.5E-02
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		0.700 1.000 1 2017 2017
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
dbSNP: rs794727997
rs794727997 		1.000 7 103503158 missense variant C/A;T snv 4.0E-06
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs794727998
rs794727998 		1.000 7 103636250 missense variant T/C snv
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs794727999
rs794727999 		1.000 7 103490747 missense variant C/T snv
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs797045000
rs797045000 		1.000 7 103630111 missense variant G/A snv
CUI: C4225327
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 		0.700 0
dbSNP: rs362719
rs362719 		0.925 0.040 7 103545430 intron variant C/A snv 0.32
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2010 2011
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: rs114684479
rs114684479 		1.000 0.040 7 103596518 missense variant G/T snv 1.6E-03 1.4E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
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: 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: 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