CETN1, centrin 1, 1068

N. diseases: 82; N. variants: 2
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: rs1388207245
rs1388207245 		18 580558 synonymous variant G/A snv 7.0E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs748086331
rs748086331 		18 580583 missense variant G/A snv 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014