STIM1, stromal interaction molecule 1, 6786

N. diseases: 247; N. variants: 23
Disease: MYOPATHY, TUBULAR AGGREGATE, 1 ×
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: rs397514675
rs397514675 		1.000 0.080 11 3967663 missense variant A/G snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015
dbSNP: rs397514676
rs397514676 		1.000 0.080 11 4023927 missense variant C/A;T snv 4.0E-06
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015
dbSNP: rs397514677
rs397514677 		0.851 0.400 11 4023928 missense variant A/G snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015
dbSNP: rs397515436
rs397515436 		1.000 0.080 11 3967628 missense variant C/A snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015
dbSNP: rs527236030
rs527236030 		0.851 0.400 11 4023945 missense variant A/T snv
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015
dbSNP: rs748277951
rs748277951 		1.000 0.080 11 3967651 missense variant A/C;G snv 2.0E-05
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2013 2015