Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768119894
rs768119894
RELN
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 0 2015 2015
dbSNP: rs1554404013
rs1554404013
RELN
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
RELN
1.000 7 103701000 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2000 2015
dbSNP: rs114684479
rs114684479
RELN
1.000 0.040 7 103596518 missense variant G/T snv 1.6E-03 1.4E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs115035120
rs115035120
RELN ; LOC101927870
1.000 0.040 7 103483741 missense variant C/T snv 8.5E-04 2.9E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs200124755
rs200124755
RELN ; LOC101927870
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 		0.700 1.000 1 2018 2018
dbSNP: rs369993428
rs369993428
RELN
1.000 0.040 7 103556983 missense variant T/C snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs751409835
rs751409835
RELN ; LOC101927870
1.000 0.040 7 103486204 stop gained G/A;C snv 1.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs587780435
rs587780435
RELN
1.000 0.080 7 103565295 stop gained G/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 0
dbSNP: rs587780436
rs587780436
RELN
1.000 0.080 7 103565279 frameshift variant -/GGAGAGTGGAAGGT delins
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 0
dbSNP: rs587780437
rs587780437
RELN
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 		0.700 0
dbSNP: rs794727996
rs794727996
RELN
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
RELN ; LOC101927870
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
RELN
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
RELN ; LOC101927870
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
RELN
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
RELN
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 		0.700 0
dbSNP: rs797045915
rs797045915
RELN
1.000 0.080 7 103557992 stop gained G/A snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		0.700 0
dbSNP: rs869320767
rs869320767
RELN
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 		0.700 0