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: 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: 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: 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: 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
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: 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: rs764698870
rs764698870 		0.925 0.160 9 36222839 missense variant G/A;T snv 4.8E-05; 4.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 18 2001 2015
dbSNP: rs539332585
rs539332585 		1.000 0.120 9 36246118 missense variant G/A snv 1.2E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 15 2001 2015
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: 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: 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: 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: 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: 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: 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: 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: 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