NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
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: rs1235589246
rs1235589246 		1.000 0.080 2 151525981 frameshift variant C/- delins 4.0E-06 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1242775893
rs1242775893 		1.000 0.080 2 151545951 stop gained G/A;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1302373559
rs1302373559 		1.000 0.080 2 151518317 splice donor variant C/T snv 2.8E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1332061304
rs1332061304 		1.000 0.080 2 151497025 stop gained G/A;T snv 5.4E-06 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1336053002
rs1336053002 		1.000 0.080 2 151619450 splice donor variant C/A;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1337287633
rs1337287633 		1.000 0.080 2 151540695 splice donor variant A/G snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1344099907
rs1344099907 		0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1357452519
rs1357452519 		1.000 0.080 2 151489969 splice donor variant -/TCCAT ins 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1357811155
rs1357811155 		1.000 0.080 2 151493807 frameshift variant TT/- delins 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1366853918
rs1366853918 		1.000 0.080 2 151497625 splice donor variant C/T snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1386238241
rs1386238241 		1.000 0.080 2 151675308 stop gained G/T snv 4.5E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1389892619
rs1389892619 		1.000 0.080 2 151527587 splice acceptor variant T/C snv 4.1E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1390379576
rs1390379576 		1.000 0.080 2 151630820 splice acceptor variant C/T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1423137705
rs1423137705 		1.000 0.080 2 151499383 splice acceptor variant ACAACACCT/- delins 6.4E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1428597732
rs1428597732 		1.000 0.080 2 151729657 splice acceptor variant C/G;T snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs143644938
rs143644938 		1.000 0.080 2 151636226 splice donor variant C/G;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1443738549
rs1443738549 		1.000 0.080 2 151562610 splice donor variant C/T snv 4.3E-06 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1446706909
rs1446706909 		1.000 0.080 2 151530993 splice donor variant C/A;T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1446930968
rs1446930968 		1.000 0.080 2 151552671 splice donor variant C/A;T snv 2.8E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1460365350
rs1460365350 		1.000 0.080 2 151618274 splice donor variant C/T snv 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1488066635
rs1488066635 		1.000 0.080 2 151524310 splice donor variant C/- delins 7.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553448527
rs1553448527 		1.000 0.080 2 151650572 splice donor variant A/G snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553457607
rs1553457607 		1.000 0.080 2 151654101 splice acceptor variant T/A snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553468939
rs1553468939 		1.000 0.080 2 151657981 splice donor variant A/T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553468960
rs1553468960 		1.000 0.080 2 151657982 splice donor variant C/- del
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0