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: rs121908632
rs121908632 		1.000 0.120 9 36219940 missense variant C/G snv 1.6E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.840 1.000 14 2001 2007
dbSNP: rs1554658910
rs1554658910 		1.000 0.120 9 36222854 missense variant T/C snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2001 2015
dbSNP: rs387906347
rs387906347 		1.000 0.120 9 36219856 missense variant C/T snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 14 2001 2008
dbSNP: rs769215411
rs769215411 		1.000 0.120 9 36246163 missense variant G/A;C snv 1.2E-05; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 14 2001 2017
dbSNP: rs121908625
rs121908625 		1.000 0.120 9 36219927 missense variant C/T snv 8.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 2001 2004
dbSNP: rs121908626
rs121908626 		1.000 0.120 9 36218225 missense variant C/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 12 2001 2004
dbSNP: rs121908630
rs121908630 		1.000 0.120 9 36236928 missense variant C/T snv 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 2001 2004
dbSNP: rs121908631
rs121908631 		1.000 0.120 9 36223405 missense variant G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 12 2001 2004
dbSNP: rs121908633
rs121908633 		1.000 0.120 9 36233994 missense variant CA/AC mnv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 2001 2004
dbSNP: rs121908634
rs121908634 		1.000 0.120 9 36246136 missense variant T/C snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 2001 2004
dbSNP: rs1455785164
rs1455785164 		1.000 0.120 9 36233985 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 2001 2004
dbSNP: rs1554664064
rs1554664064 		1.000 0.120 9 36249277 missense variant G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 2001 2004
dbSNP: rs369328625
rs369328625 		1.000 0.120 9 36246049 missense variant T/A;C snv 3.6E-05; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 2001 2004
dbSNP: rs766266918
rs766266918 		1.000 0.120 9 36246031 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 1.000 12 2001 2004
dbSNP: rs199877522
rs199877522 		0.925 0.160 9 36227397 missense variant C/A;T snv 1.6E-04; 1.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2002 2014
dbSNP: rs748704459
rs748704459 		1.000 0.120 9 36246261 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 1.000 6 2004 2014
dbSNP: rs762106720
rs762106720 		1.000 0.120 9 36234073 missense variant G/A;C snv 2.0E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2008 2014
dbSNP: rs1057516364
rs1057516364 		1.000 0.120 9 36227267 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 1.000 5 2004 2014
dbSNP: rs779694939
rs779694939 		0.925 0.160 9 36236954 missense variant A/G snv 2.4E-05 4.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2002 2014
dbSNP: rs1057516798
rs1057516798 		1.000 0.120 9 36222887 missense variant A/G snv 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 4 2011 2015
dbSNP: rs1209266607
rs1209266607 		1.000 0.120 9 36249318 missense variant C/G snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2004 2015
dbSNP: rs1236647498
rs1236647498 		1.000 0.120 9 36249276 missense variant G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2014 2015
dbSNP: rs754892377
rs754892377 		1.000 0.120 9 36222885 missense variant G/A snv 8.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2011 2017
dbSNP: rs768384042
rs768384042 		1.000 0.120 9 36217490 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.040 1.000 4 2002 2007
dbSNP: rs769716748
rs769716748 		1.000 0.120 9 36249325 missense variant G/A snv
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2004 2015