Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143166100
rs143166100
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1441152520
rs1441152520
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		G 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1554759745
rs1554759745
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs1554769022
rs1554769022
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554769099
rs1554769099
SPTAN1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554770453
rs1554770453
SPTAN1 ; WDR34
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554770620
rs1554770620
SPTAN1 ; WDR34
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1564197227
rs1564197227
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1564286708
rs1564286708
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398122865
rs398122865
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		A 0.700 CausalMutation CLINVAR

dbSNP: rs431905519
rs431905519
SPTAN1 ; WDR34
CUI: C3810200
Disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY 		C 0.700 CausalMutation CLINVAR

dbSNP: rs569997507
rs569997507
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs587784438
rs587784438
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C0036572
Disease: Seizures
Seizures 		GGGACCAGCT 0.700 CausalMutation CLINVAR SPTAN1 encephalopathy: distinct phenotypes and genotypes. 25631096

2015
dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C0036572
Disease: Seizures
Seizures 		GGGACCAGCT 0.700 CausalMutation CLINVAR Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. 22656320

2013
dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587784440
rs587784440
SPTAN1
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		GGGACCAGCT 0.700 CausalMutation CLINVAR

dbSNP: rs751323441
rs751323441
SPTAN1 ; WDR34
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs77358650
rs77358650
SPTAN1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs780658554
rs780658554
SPTAN1
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
dbSNP: rs796053335
rs796053335
SPTAN1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		GGCATGC 0.700 CausalMutation CLINVAR