PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
Disease: SUDDEN CARDIAC FAILURE, INFANTILE ×
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: rs139076647
rs139076647 		1.000 4 105446444 missense variant C/A;T snv 1.5E-04; 2.0E-05
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 1.000 2 2016 2016
dbSNP: rs146013446
rs146013446 		0.925 4 105437964 missense variant C/T snv 4.9E-04 6.9E-04
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 1.000 2 2016 2016
dbSNP: rs546693824
rs546693824 		1.000 4 105437978 missense variant G/A snv 1.6E-05
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 1.000 2 2016 2016
dbSNP: rs1057517678
rs1057517678 		1.000 4 105386625 missense variant T/G snv
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 0
dbSNP: rs1057517679
rs1057517679 		1.000 4 105449391 missense variant T/C snv
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 0
dbSNP: rs1057517680
rs1057517680 		1.000 4 105449353 missense variant C/A snv
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.800 0
dbSNP: rs772083375
rs772083375 		1.000 4 105456721 missense variant G/A;C snv 8.1E-06; 4.0E-06
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE 		0.700 0