Disease: NONAKA 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: rs1057516275
rs1057516275 		1.000 0.120 9 36227371 frameshift variant T/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516340
rs1057516340 		1.000 0.120 9 36222794 frameshift variant AACAAAGT/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516597
rs1057516597 		1.000 0.120 9 36223372 splice donor variant C/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516705
rs1057516705 		1.000 0.120 9 36223501 splice acceptor variant C/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516746
rs1057516746 		1.000 0.120 9 36234046 stop gained G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516906
rs1057516906 		1.000 0.120 9 36236946 stop gained G/A snv 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516915
rs1057516915 		1.000 0.120 9 36246209 frameshift variant TAGA/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516965
rs1057516965 		1.000 0.120 9 36222993 frameshift variant A/- delins 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1191857860
rs1191857860 		1.000 0.120 9 36217511 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908628
rs121908628 		1.000 0.120 9 36233993 stop gained A/T snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1357906793
rs1357906793 		1.000 0.120 9 36246075 stop gained G/C snv 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1382191649
rs1382191649 		1.000 0.120 9 36218228 missense variant C/T snv 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1423445315
rs1423445315 		1.000 0.120 9 36246259 frameshift variant T/- delins 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554658453
rs1554658453 		1.000 0.120 9 36219914 frameshift variant G/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554661552
rs1554661552 		1.000 0.120 9 36236920 frameshift variant -/T delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554661561
rs1554661561 		1.000 0.120 9 36236961 frameshift variant A/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554661569
rs1554661569 		1.000 0.120 9 36236970 frameshift variant -/T delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554664090
rs1554664090 		1.000 0.120 9 36249361 stop gained G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563946658
rs1563946658 		1.000 0.120 9 36246202 missense variant C/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs200763627
rs200763627 		0.925 0.160 9 36276927 stop gained A/G;T snv 8.1E-06; 2.0E-04
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs745517517
rs745517517 		1.000 0.120 9 36246472 stop gained G/A snv 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886043636
rs886043636 		0.925 0.160 9 36229018 splice donor variant -/A delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886043979
rs886043979 		1.000 0.120 9 36219984 missense variant A/G snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886044449
rs886044449 		1.000 0.120 9 36219968 frameshift variant G/- del
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886044514
rs886044514 		1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0