FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
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: rs28937900
rs28937900 		0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.710 1.000 11 2001 2018
dbSNP: rs28937903
rs28937903 		0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 7 2004 2014
dbSNP: rs770711331
rs770711331 		0.925 0.160 19 46755716 missense variant C/T snv 1.5E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 6 2005 2009
dbSNP: rs104894692
rs104894692 		0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2003 2008
dbSNP: rs754403441
rs754403441 		0.925 0.160 19 46756586 frameshift variant G/-;GG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 5 2001 2015
dbSNP: rs104894680
rs104894680 		1.000 0.120 19 46756604 stop gained C/A;G;T snv 4.1E-06; 1.7E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2001 2004
dbSNP: rs1555738103
rs1555738103 		1.000 0.120 19 46755588 frameshift variant C/- delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2001 2012
dbSNP: rs1568419860
rs1568419860 		1.000 0.120 19 46756525 frameshift variant -/GG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2005 2017
dbSNP: rs563033008
rs563033008 		0.925 0.160 19 46756348 missense variant G/A snv 3.2E-05 3.1E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 4 2003 2017
dbSNP: rs104894691
rs104894691 		0.925 0.160 19 46756349 missense variant T/C snv 6.4E-06 4.2E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2003 2014
dbSNP: rs1247934219
rs1247934219 		1.000 0.120 19 46756273 missense variant C/T snv 1.7E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2007 2013
dbSNP: rs543163491
rs543163491 		0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2016 2018
dbSNP: rs121908110
rs121908110 		0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs886042506
rs886042506 		0.925 0.160 19 46755610 frameshift variant -/GGAG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs104894682
rs104894682 		0.925 0.160 19 46756936 stop lost T/A snv 8.1E-06 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060502109
rs1060502109 		1.000 0.120 19 46756533 stop gained C/A;G snv 4.5E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1290836394
rs1290836394 		1.000 0.120 19 46755605 frameshift variant -/TGCGG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886044183
rs886044183 		0.925 0.160 19 46756420 stop gained G/A;C;T snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0