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: 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: 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: 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