SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
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: rs548424453
rs548424453
1.000 0.040 20 46057189 missense variant C/A;T snv 5.2E-05
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
0.800 1.000 3 2014 2015
dbSNP: rs863225304
rs863225304
1.000 20 46043294 missense variant T/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.800 1.000 1 2015 2015
dbSNP: rs863225305
rs863225305
1.000 20 46045891 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.800 1.000 1 2015 2015
dbSNP: rs863225306
rs863225306
1.000 20 46041337 missense variant T/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.800 1.000 1 2015 2015
dbSNP: rs142740233
rs142740233
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
0.700 1.000 3 2014 2015
dbSNP: rs10432735
rs10432735
20 46021679 non coding transcript exon variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs12624433
rs12624433
1.000 0.040 20 46052214 intron variant G/A snv 0.20
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs12624433
rs12624433
1.000 0.040 20 46052214 intron variant G/A snv 0.20
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs6094239
rs6094239
20 46024910 intron variant G/A snv 0.90
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1220094830
rs1220094830
1.000 20 46041441 missense variant T/C;G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1259210706
rs1259210706
1.000 20 46041427 stop gained G/A;C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1555863145
rs1555863145
1.000 20 46040466 frameshift variant TG/- delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1555863593
rs1555863593
1.000 20 46041453 frameshift variant -/T delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1555868402
rs1555868402
1.000 20 46057528 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1568858867
rs1568858867
1.000 20 46035536 splice donor variant G/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1568859798
rs1568859798
1.000 20 46037345 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1568862550
rs1568862550
1.000 20 46043213 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1568866916
rs1568866916
1.000 20 46051731 inframe deletion TCC/- delins
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
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
0.700 0
dbSNP: rs1397360375
rs1397360375
1.000 0.040 20 46021886 missense variant G/T snv
Epilepsy of infancy with migrating focal seizures
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs142740233
rs142740233
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs142740233
rs142740233
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs548424453
rs548424453
1.000 0.040 20 46057189 missense variant C/A;T snv 5.2E-05
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
Nervous System Diseases 0.010 1.000 1 2014 2014