PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cardiomyopathy, Dilated, 1u ×
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: rs121917809
rs121917809 		1.000 0.040 14 73211811 missense variant A/G;T snv 7.6E-05
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		Cardiovascular Diseases 0.800 1.000 2 2006 2017
dbSNP: rs63749836
rs63749836 		0.827 0.160 14 73192786 missense variant G/A snv
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		Cardiovascular Diseases 0.700 0
dbSNP: rs63751223
rs63751223 		0.807 0.160 14 73219161 missense variant G/C snv
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		Cardiovascular Diseases 0.700 0