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: 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
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: rs797045912
rs797045912 		1.000 0.080 7 103917082 frameshift variant -/A delins 1.6E-05
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: rs797045915
rs797045915 		1.000 0.080 7 103557992 stop gained G/A 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: rs869320767
rs869320767 		1.000 0.080 7 103553659 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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