Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853066
rs137853066
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853068
rs137853068
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853069
rs137853069
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853070
rs137853070
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853071
rs137853071
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853072
rs137853072
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. 24561201 2014
dbSNP: rs137853066
rs137853066
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853068
rs137853068
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853069
rs137853069
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853070
rs137853070
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853071
rs137853071
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853072
rs137853072
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs137853066
rs137853066
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853066
rs137853066
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853068
rs137853068
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853068
rs137853068
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853069
rs137853069
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853069
rs137853069
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853070
rs137853070
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853070
rs137853070
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853071
rs137853071
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853071
rs137853071
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853072
rs137853072
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. 19289823 2009
dbSNP: rs137853072
rs137853072
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
0.800 GeneticVariation UNIPROT Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. 19420365 2009
dbSNP: rs137853066
rs137853066
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
CUI: C2748572
Disease:
SeSAME syndrome
G 0.800 CausalMutation CLINVAR