TPM3, tropomyosin 3, 7170

N. diseases: 297; N. variants: 25
Disease: Nemaline myopathy 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: rs121964854
rs121964854 		0.882 0.080 1 154172972 missense variant G/A;C snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 22 1995 2017
dbSNP: rs121964852
rs121964852 		0.851 0.080 1 154172971 missense variant C/T snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 9 1995 2014
dbSNP: rs80358247
rs80358247 		0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 1995 2014
dbSNP: rs797046047
rs797046047 		1.000 0.080 1 154170441 missense variant C/A snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2008 2014
dbSNP: rs121964853
rs121964853 		0.925 0.080 1 154176194 missense variant G/C;T snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2008 2015
dbSNP: rs80358248
rs80358248 		1.000 0.080 1 154191925 stop gained G/A snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1553248515
rs1553248515 		0.925 0.080 1 154170417 missense variant G/T snv
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199474719
rs199474719 		1.000 0.080 1 154167940 frameshift variant T/- del
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661406
rs876661406 		1.000 0.080 1 154170679 inframe deletion TTC/- delins
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661407
rs876661407 		1.000 0.080 1 154170695 inframe deletion CTT/- delins
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0