CA5A, carbonic anhydrase 5A, 763

N. diseases: 42; N. variants: 6
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: rs587777316
rs587777316 		1.000 16 87891876 missense variant A/G snv 1.0E-05; 5.1E-06 7.0E-06
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.800 1.000 1 2014 2014
dbSNP: rs147623570
rs147623570 		1.000 16 87902425 missense variant C/T snv 1.7E-04 1.1E-04
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 1.000 1 2014 2014
dbSNP: rs149322277
rs149322277 		1.000 0.040 16 87925065 intron variant C/T snv 5.6E-03
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs149322277
rs149322277 		1.000 0.040 16 87925065 intron variant C/T snv 5.6E-03
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs149322277
rs149322277 		1.000 0.040 16 87925065 intron variant C/T snv 5.6E-03
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs8056952
rs8056952 		16 87888430 intron variant A/G snv 0.34
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs563971993
rs563971993 		1.000 16 87891852 missense variant C/T snv 3.5E-04 6.3E-05
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 0
dbSNP: rs767402215
rs767402215 		1.000 16 87936357 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C3810404
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 		0.700 0