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: rs766420673
rs766420673 		1.000 0.120 9 36249334 stop gained G/A;T snv 8.0E-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 3 2010 2015
dbSNP: rs372872777
rs372872777 		1.000 0.120 9 36246262 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 1.000 2 2014 2014
dbSNP: rs747199032
rs747199032 		1.000 0.120 9 36227271 stop gained G/A snv 1.6E-05 7.0E-06
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2012 2014
dbSNP: rs1057516374
rs1057516374 		1.000 0.120 9 36233986 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 1.000 1 2015 2015
dbSNP: rs1212623980
rs1212623980 		1.000 0.120 9 36222925 stop gained 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 1 2013 2013
dbSNP: rs757523840
rs757523840 		0.925 0.160 9 36218272 stop gained G/C snv 8.0E-06 2.8E-05
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs786204476
rs786204476 		1.000 0.120 9 36246035 stop gained C/T 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 1.000 1 2010 2010
dbSNP: rs786204558
rs786204558 		1.000 0.120 9 36223478 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 1.000 1 2010 2010
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: 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: 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: 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: 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
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
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