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: rs918998080
rs918998080 		1.000 0.120 9 36246490 splice region variant C/T snv 4.1E-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
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: rs1057516657
rs1057516657 		1.000 0.120 9 36222866 frameshift variant CT/- delins
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1057517094
rs1057517094 		1.000 0.120 9 36236964 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 1.000 1 2006 2006
dbSNP: rs1057517157
rs1057517157 		1.000 0.120 9 36219873 frameshift variant A/- del
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
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: 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: 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: 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: rs1554663295
rs1554663295 		1.000 0.120 9 36246030 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 1.000 1 2004 2004
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: 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: rs28937594
rs28937594 		0.925 0.160 9 36217399 missense variant A/G snv 4.0E-05 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.900 1.000 26 2001 2017
dbSNP: rs139425890
rs139425890 		1.000 0.120 9 36246120 missense variant T/A snv 5.2E-05 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.820 1.000 24 2001 2019
dbSNP: rs121908627
rs121908627 		0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 23 2001 2017
dbSNP: rs773729410
rs773729410 		0.925 0.160 9 36236865 missense variant G/A 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 0.800 1.000 21 2001 2015
dbSNP: rs121908629
rs121908629 		1.000 0.120 9 36236864 missense variant C/G;T snv 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 20 2001 2016
dbSNP: rs62541771
rs62541771 		0.925 0.160 9 36218224 missense variant G/A snv 8.7E-05 1.0E-04
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 19 2001 2014
dbSNP: rs748949603
rs748949603 		0.925 0.160 9 36219894 missense variant A/G snv 4.0E-06 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 19 2001 2015