MYOZ2, myozenin 2, 51778

N. diseases: 24; N. variants: 3
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: rs199476398
rs199476398 		0.925 0.040 4 119150937 missense variant T/C snv
CUI: C3151204
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 		0.800 1.000 1 2007 2007
dbSNP: rs140126678
rs140126678 		0.925 0.040 4 119186143 missense variant A/G snv 2.1E-03 2.1E-03
CUI: C3151204
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 		0.700 1.000 1 2007 2007
dbSNP: rs7655064
rs7655064 		4 119185193 intron variant T/C snv 0.12
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs140126678
rs140126678 		0.925 0.040 4 119186143 missense variant A/G snv 2.1E-03 2.1E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2007 2013
dbSNP: rs199476398
rs199476398 		0.925 0.040 4 119150937 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2007 2013