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: rs143697995
rs143697995 		0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.800 0
dbSNP: rs143697995
rs143697995 		0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs143697995
rs143697995 		0.882 0.040 2 223959821 missense variant T/C;G snv 5.6E-05; 2.2E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015