SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 ×
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: rs863225304
rs863225304 		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 		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 		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: rs1220094830
rs1220094830 		1.000 20 46041441 missense variant T/C;G snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1259210706
rs1259210706 		1.000 20 46041427 stop gained G/A;C snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1555863145
rs1555863145 		1.000 20 46040466 frameshift variant TG/- delins
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1555863593
rs1555863593 		1.000 20 46041453 frameshift variant -/T delins
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1555868402
rs1555868402 		1.000 20 46057528 missense variant G/A snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1568858867
rs1568858867 		1.000 20 46035536 splice donor variant G/C snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1568859798
rs1568859798 		1.000 20 46037345 missense variant C/T snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1568862550
rs1568862550 		1.000 20 46043213 missense variant C/T snv
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs1568866916
rs1568866916 		1.000 20 46051731 inframe deletion TCC/- delins
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs368484023
rs368484023 		1.000 20 46043638 missense variant A/G;T snv 4.0E-06 7.0E-06
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0
dbSNP: rs750336750
rs750336750 		1.000 20 46053600 missense variant G/A;T snv 4.0E-06 2.1E-05
CUI: C4225257
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.700 0