ADAM19, ADAM metallopeptidase domain 19, 8728

N. diseases: 45; N. variants: 27
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: rs370356566
rs370356566 		1.000 5 157471733 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.800 1.000 3 2004 2016
dbSNP: rs11740562
rs11740562 		5 157515277 intron variant A/G snv 7.1E-02
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs11740562
rs11740562 		5 157515277 intron variant A/G snv 7.1E-02
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs199422217
rs199422217 		1.000 5 157468728 missense variant C/A;G snv 6.5E-04
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 7 2004 2016
dbSNP: rs775903553
rs775903553 		1.000 5 157463295 missense variant G/A;T snv 4.0E-06; 3.2E-05
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 3 2004 2016
dbSNP: rs2277027
rs2277027 		5 157505368 intron variant A/C snv 0.42
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 2 2010 2012
dbSNP: rs4331881
rs4331881 		5 157517467 intron variant G/T snv 0.42
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 2 2010 2010
dbSNP: rs4331881
rs4331881 		5 157517467 intron variant G/T snv 0.42
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 2 2010 2010
dbSNP: rs10078178
rs10078178 		5 157505976 intron variant A/T snv 0.42
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010
dbSNP: rs10078178
rs10078178 		5 157505976 intron variant A/T snv 0.42
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2010 2010
dbSNP: rs10866659
rs10866659 		1.000 0.040 5 157510035 intron variant A/G;T snv
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2010 2010
dbSNP: rs10866659
rs10866659 		1.000 0.040 5 157510035 intron variant A/G;T snv
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010
dbSNP: rs10866659
rs10866659 		1.000 0.040 5 157510035 intron variant A/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11134766
rs11134766 		5 157481309 3 prime UTR variant C/T snv 4.9E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs11134766
rs11134766 		5 157481309 3 prime UTR variant C/T snv 4.9E-02
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs11134779
rs11134779 		5 157509758 intron variant A/G snv 0.42
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010
dbSNP: rs11134779
rs11134779 		5 157509758 intron variant A/G snv 0.42
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2010 2010
dbSNP: rs11134789
rs11134789 		5 157517191 intron variant C/A;G snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs11134789
rs11134789 		5 157517191 intron variant C/A;G snv
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs113897301
rs113897301 		1.000 0.040 5 157502070 intron variant T/-;TT;TTTTTTTTTTT delins
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11465228
rs11465228 		1.000 0.040 5 157575687 missense variant C/A;T snv 0.12 7.7E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1422795
rs1422795 		5 157509356 missense variant T/C;G snv 0.38; 8.0E-06
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2010 2010
dbSNP: rs1422795
rs1422795 		5 157509356 missense variant T/C;G snv 0.38; 8.0E-06
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010
dbSNP: rs1561831582
rs1561831582 		1.000 5 157471818 splice donor variant G/A snv
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 1.000 1 2007 2007
dbSNP: rs1990950
rs1990950 		5 157493748 intron variant G/T snv 0.37
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2010 2010