PPA2, inorganic pyrophosphatase 2, 27068

N. diseases: 15; N. variants: 15
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: rs146013446
rs146013446 		0.925 4 105437964 missense variant C/T snv 4.9E-04 6.9E-04
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.800 1.000 1 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: rs9992793
rs9992793 		4 105404743 intron variant C/T snv 0.47
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs148389026
rs148389026 		4 105436974 intron variant C/G snv 3.4E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2636699
rs2636699 		4 105391656 intron variant T/C snv 0.26
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2726453
rs2726453 		4 105398679 non coding transcript exon variant T/G snv 0.42
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs2726528
rs2726528 		4 105395270 intron variant C/T snv 0.26
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs72954323
rs72954323 		4 105466947 intron variant G/A snv 8.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs77928427
rs77928427 		1.000 0.080 4 105435604 intron variant C/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs138215926
rs138215926 		1.000 4 105399137 missense variant G/A snv 2.0E-04 4.3E-04
CUI: C4310663
Disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 		0.700 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