Source: UNIPROT

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: rs548424453
rs548424453
SLC12A5
1.000 0.040 20 46057189 missense variant C/A;T snv 5.2E-05
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.800 1.000 3 2014 2015
dbSNP: rs863225304
rs863225304
SLC12A5
1.000 20 46043294 missense variant T/C snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.800 1.000 1 2015 2015
dbSNP: rs863225305
rs863225305
SLC12A5
1.000 20 46045891 missense variant G/A snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.800 1.000 1 2015 2015
dbSNP: rs863225306
rs863225306
SLC12A5
1.000 20 46041337 missense variant T/A snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.800 1.000 1 2015 2015
dbSNP: rs142740233
rs142740233
SLC12A5
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06
CUI: C4225245
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		0.700 1.000 3 2014 2015