Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1011425121
rs1011425121
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1011425121
rs1011425121
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1037388276
rs1037388276
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057515573
rs1057515573
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057515574
rs1057515574
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		AAAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1057515575
rs1057515575
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516348
rs1057516348
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516381
rs1057516381
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516676
rs1057516676
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516739
rs1057516739
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516758
rs1057516758
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs1057516758
rs1057516758
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs1057516938
rs1057516938
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516996
rs1057516996
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs1057517317
rs1057517317
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517360
rs1057517360
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs1057517399
rs1057517399
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517977
rs1057517977
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs111300270
rs111300270
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs112517981
rs112517981
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs112544116
rs112544116
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs112610938
rs112610938
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs112687345
rs112687345
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113091511
rs113091511
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs113290650
rs113290650
NEB ; RIF1
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		C 0.700 GeneticVariation CLINVAR