Disease: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906829
rs387906829
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		0.800 GeneticVariation UNIPROT A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. 21842496 2011
dbSNP: rs387906829
rs387906829
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs780136067
rs780136067
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		AG 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1270528470
rs1270528470
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554707622
rs1554707622
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554707680
rs1554707680
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564096761
rs1564096761
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
CUI: C3280587
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 		A 0.700 CausalMutation CLINVAR