MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
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: rs104893748
rs104893748 		0.925 0.080 3 46859511 missense variant T/C snv
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 8 1996 2017
dbSNP: rs104893749
rs104893749 		0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1996 2013
dbSNP: rs104893750
rs104893750 		0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1996 2013