STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: Tubular Aggregate Myopathy ×
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: rs483352867
rs483352867 		0.827 0.400 11 4074620 missense variant C/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 6 2014 2019
dbSNP: rs527236030
rs527236030 		0.851 0.400 11 4023945 missense variant A/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2015
dbSNP: rs1565171115
rs1565171115 		0.882 0.400 11 4083475 frameshift variant T/- delins
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397514677
rs397514677 		0.851 0.400 11 4023928 missense variant A/G snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0