DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: Charcot-Marie-Tooth Disease ×
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: rs387906738
rs387906738 		0.882 0.080 14 101980506 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253 		1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014